Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:9858028C>T	uc010uym.2	-	13	3683	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1125K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E968K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1125K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1125					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(4)		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)	AAACCAGGCTCCTTCTCACCA	0.507000														137			8		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43639630	43639630	+	Silent	SNP	G	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:43639630G>T	uc004dfz.4	-	9	1214	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	MAOB_uc011mkx.2_Silent_p.A330A|MAOB_uc011mky.2_Silent_p.A330A	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	346					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGGCTTTGTGGGCCAGGATAA	0.423000														26			3		1.024e-07	1.03717e-07	1	1	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:51174110G>A	uc021tif.1	-	1	2054	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_uc021tid.1_Missense_Mutation_p.P578S|SALL1_uc021tie.1_Missense_Mutation_p.P675S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	675					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P577H(1)|p.P675S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582000														103			8		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83402023	83402023	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:83402023C>T	uc004eej.2	-	4	420	c.384G>A	c.(382-384)gtG>gtA	p.V128V	RPS6KA6_uc011mqt.2_Silent_p.V128V|RPS6KA6_uc011mqu.2_Silent_p.V25V|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	128	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V128E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATTTACTTCCACCAGTATAT	0.284000														63			7		0	0	1	0	0
C1orf201	90529	broad.mit.edu	37	1	24696257	24696257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:24696257G>A	uc001bjc.3	-	6	811	c.644C>T	c.(643-645)aCc>aTc	p.T215I	C1orf201_uc010oej.2_Missense_Mutation_p.T43I|C1orf201_uc001bjb.3_Missense_Mutation_p.T123I|C1orf201_uc001bja.3_Missense_Mutation_p.T168I|C1orf201_uc001bjd.3_Missense_Mutation_p.T215I|C1orf201_uc001bjf.3_Missense_Mutation_p.T83I	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	215								p.P215P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		TCCACGGTTGGTTTTTGATTT	0.403000														77			5		0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50375998	50375998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:50375998C>T	uc010qgo.2	-	1	79	c.53G>A	c.(52-54)gGa>gAa	p.G18E	C10orf128_uc001jhl.4_Non-coding_Transcript|C10orf128_uc001jhn.4_Missense_Mutation_p.G18E|C10orf128_uc001jho.4_Missense_Mutation_p.G18E			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	18						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CACTTGAGCTCCTCCTACATC	0.572000														99			4		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853834	40853834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:40853834G>A	uc003jmg.3	+	2	2475	c.2400G>A	c.(2398-2400)atG>atA	p.M800I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	800					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAGATTCATGAAATTTTCCA	0.473000														360			27		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432922	55432922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:55432922G>A	uc010rik.2	+	0	280	c.280G>A	c.(280-282)Ggc>Agc	p.G94S		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G94V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCTCTCAAAGGCTGCCTCAC	0.517000														65			5		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489239	128489239	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:128489239C>T	uc003vnz.4	+	28	5141	c.4932C>T	c.(4930-4932)tcC>tcT	p.S1644S	FLNC_uc003voa.4_Silent_p.S1644S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1644					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCCAGTGTCCATTGGAGGCC	0.657000														47			4		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503934	71503934	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:71503934A>G	uc004agu.3	+	6	661	c.356A>G	c.(355-357)aAc>aGc	p.N119S	PIP5K1B_uc011lrq.2_Missense_Mutation_p.N119S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	119	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.N119S(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GAACTGTCTAACCCTGGAGCC	0.388000														95			6		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						55			6		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784439	46784439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:46784439C>T	uc010hjl.3	-	2	452	c.417G>A	c.(415-417)atG>atA	p.M139I	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	171	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						TGGCACAGATCATGTCCCCCA	0.532000														21			3		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843076	123843076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:123843076C>T	uc001lfv.3	+	3	1421	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A354V|TACC2_uc010qtv.2_Missense_Mutation_p.A354V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	354						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAAGTCCTGCCCTGGTGCCA	0.617000														58			10		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171073016	171073016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:171073016C>T	uc001ghi.3	+	2	334	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	FMO3_uc001ghh.3_Missense_Mutation_p.P75S|FMO3_uc010pmb.2_Missense_Mutation_p.P55S|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	75					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCCCATTTCCCGATGACTT	0.423000														66			4		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102965042	102965042	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:102965042C>T	uc003hvy.4	+	10	2221	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	BANK1_uc003hvx.4_Silent_p.F634F|BANK1_uc010ill.3_Silent_p.F516F|BANK1_uc003hvz.4_Silent_p.F619F	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	649					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATGACAAGTTCTGTGGTCTTC	0.308000														101			10		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259363	43259363	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:43259363C>T	uc002ouo.2	-	3	863	c.765G>A	c.(763-765)aaG>aaA	p.K255K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.K255K|PSG8_uc010ein.3_Silent_p.K133K|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	255	Ig-like C2-type 2.					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)				TTAAGACATCCTTATTCTCCC	0.483000														228			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067233	9067233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:9067233C>T	uc002mkp.3	-	2	20417	c.20213G>A	c.(20212-20214)cGa>cAa	p.R6738Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6740	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCTGTTCGAGTGATGAT	0.502000														215			24		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525494	176525494	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:176525494G>A	uc001gkz.3	+	1	1200	c.36G>A	c.(34-36)gcG>gcA	p.A12A	PAPPA2_uc001gky.1_Silent_p.A12A|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	12					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TAAGCCTGGCGATTTTGGCTG	0.512000														130			9		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133945853	133945853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:133945853G>A	uc003ytw.3	+	23	4905	c.4864G>A	c.(4864-4866)Gag>Aag	p.E1622K	TG_uc010mdw.3_Missense_Mutation_p.E381K|TG_uc011ljb.2_Missense_Mutation_p.E55K	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1622					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTCCACGACGGAGCCAGAGAT	0.572000														135			8		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251205	171251205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:171251205G>A	uc009wvz.3	+	6	1052	c.916G>A	c.(916-918)Gta>Ata	p.V306I	FMO1_uc010pme.2_Missense_Mutation_p.V243I|FMO1_uc001ghl.3_Missense_Mutation_p.V306I|FMO1_uc001ghm.3_Missense_Mutation_p.V306I	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	306					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATAAAAGAGGTAAAGGAAAA	0.408000														36			6		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079465	23079465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:23079465G>A	uc002dll.3	-	15	3961	c.3961C>T	c.(3961-3963)Ccc>Tcc	p.P1321S	USP31_uc002dlk.3_Missense_Mutation_p.P593S|USP31_uc010vca.2_Missense_Mutation_p.P624S|USP31_uc010bxm.3_Missense_Mutation_p.P609S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1321					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAGACGAGGGAACTCCAGAG	0.507000														112			8		0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110723	110723	+	Silent	SNP	A	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:110723A>G	uc002loc.1	+	0	45	c.45A>G	c.(43-45)ggA>ggG	p.G15G	OR4F17_uc002lob.1_Silent_p.G15G	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q14H(1)		lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCTCAGGGACTCCAGACCT	0.403000														488			21		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697401	153697401	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:153697401C>T	uc004flm.3	+	25	4610	c.4437C>T	c.(4435-4437)acC>acT	p.T1479T		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1479					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCTCAGACCCTTCACTGCG	0.622000														61			7		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022107	120022107	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:120022107G>A	uc003ksq.3	+	1	781	c.618G>A	c.(616-618)cgG>cgA	p.R206R	PRR16_uc003ksp.3_Silent_p.R183R|PRR16_uc003ksr.3_Silent_p.R136R	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	206	Pro-rich.							p.R206S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACGAGTTCGGTTTAATGAAA	0.478000														44			5		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70513913	70513913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:70513913G>A	uc003xyg.2	+	8	1471	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	SULF1_uc010lza.1_Missense_Mutation_p.G304R|SULF1_uc003xyd.2_Missense_Mutation_p.G304R|SULF1_uc003xye.2_Missense_Mutation_p.G304R|SULF1_uc003xyf.2_Missense_Mutation_p.G304R|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	304					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.G304R(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGTGGAGACGGGGGAGCTGGA	0.448000														96			4		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092442	30092442	+	RNA	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr18:30092442C>T	uc010dmc.3	+	0		c.817C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CTCCTCAAGTCGTGCAGATGT	0.547000														78			7		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301835	77301835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:77301835G>A	uc004ecx.4	+	22	4431	c.4271G>A	c.(4270-4272)aGc>aAc	p.S1424N		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1424					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CCTGCCCGGAGCCAGATAGGA	0.423000														166			7		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284094	152284094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:152284094C>T	uc001ezu.1	-	2	3304	c.3268G>A	c.(3268-3270)Gga>Aga	p.G1090R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1090	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)			CCATCCTGTCCATGGCCTGAC	0.577000									Ichthyosis					474			63		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2581424	2581424	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:2581424G>A	uc003smi.3	-	7	1350	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	BRAT1_uc003smh.4_5'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	354					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGGAGGCCAGGAGTGTGTCCA	0.687000														28			3		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668999	53668999	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:53668999G>A	uc010eqm.1	-	3	844	c.744C>T	c.(742-744)aaC>aaT	p.N248N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GACCTGCAAGGTTTGAAGGTT	0.393000														80			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569660	179569660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:179569660C>T	uc021vsy.1	-	100	26131	c.25906G>A	c.(25906-25908)Gaa>Aaa	p.E8636K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5297K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9563	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCCTTTTCGTCCCTCTCT	0.328000														112			8		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137713982	137713982	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:137713982C>T	uc004cfe.3	+	58	4976	c.4594C>T	c.(4594-4596)Ccc>Tcc	p.P1532S	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1532	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCTCCTGGGCCCCCTGGCCT	0.612000														91			6		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46276031	46276031	+	Missense_Mutation	SNP	G	A	A	rs146235035		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr20:46276031G>A	uc002xtk.3	+	17	3728	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	NCOA3_uc002xtl.3_Missense_Mutation_p.R1156Q|NCOA3_uc002xtn.3_Missense_Mutation_p.R1156Q|NCOA3_uc010ght.2_Missense_Mutation_p.R1151Q|NCOA3_uc002xtm.3_Missense_Mutation_p.R1156Q|NCOA3_uc010zyc.2_Missense_Mutation_p.R951Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1156	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGCACCCACGAGCCAACATC	0.493000														52			6		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202096	53202096	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:53202096G>A	uc001saz.3	-	5	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	369						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGATGTTCTCGATCTCTGCCC	0.532000														154			12		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212511	1212511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:1212511C>T	uc003jbw.4	+	3	631	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	192					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACTCGGGCTCCATCCAGTGG	0.622000														105			6		0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575823	49575823	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr20:49575823C>T	uc002xvy.1	+	0	461	c.444C>T	c.(442-444)ctC>ctT	p.L148L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	148					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TGCGCCGCCTCAATTCGGCAG	0.647000														84			7		0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110726	110726	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:110726C>T	uc002loc.1	+	0	48	c.48C>T	c.(46-48)ctC>ctT	p.L16L	OR4F17_uc002lob.1_Silent_p.L16L	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGGGACTCCAGACCTTCC	0.398000														477			21		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33958990	33958990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:33958990G>A	uc001bxj.4	+	6	1815	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	ZSCAN20_uc009vui.3_Missense_Mutation_p.A549T	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	550					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTACCGGAAAGCCAAGAGCAG	0.597000														88			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152550864	152550864	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:152550864G>A	uc021vrb.1	-	17	1898	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	NEB_uc002txu.3_Silent_p.S623S|NEB_uc021vrc.1_Silent_p.S623S|NEB_uc010fnx.3_Silent_p.S623S|NEB_uc021vrd.1_Silent_p.S623S|NEB_uc010fny.2_Silent_p.S177S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	623					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACCTTCAAGGAGTGCAGCA	0.408000														150			10		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726307	121726307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:121726307C>T	uc010flp.3	+	4	691	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.P91L|GLI2_uc010flo.1_Missense_Mutation_p.P96S|GLI2_uc002tmw.1_Missense_Mutation_p.P221S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	221					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTTCTCCAGCCCGCGGGTGAC	0.647000														86			9		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:63990442C>T	uc003peh.3	-	3	1048	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_uc003pei.3_Missense_Mutation_p.R198Q	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	338					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TCCCAGTGATCGTGAGCTGCT	0.488000														74			5		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762262	96762262	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:96762262A>G	uc003htr.4	+	0	1024	c.961A>G	c.(961-963)Aga>Gga	p.R321G		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	321					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCTCCAAGATAGAATGGTAAA	0.423000														71			11		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101767251	101767251	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:101767251G>A	uc004azb.1	+	8	1478	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	424	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCATGCCTGGGGAAGTGGAGG	0.617000														85			7		0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5448398	5448398	+	Splice_Site	SNP	A	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:5448398A>C	uc003gih.1	+	7	627	c.563_splice	c.e7-2	p.A188_splice	STK32B_uc010ida.1_Splice_Site_p.A141_splice	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	188	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCTCGTTGGCAGCTCCAGAAG	0.522000														35			5		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726333	168726333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:168726333C>T	uc021vsc.1	+	0	784	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	B3GALT1_uc002udz.1_Missense_Mutation_p.H262Y	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	262					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAGGCTGCTTCACCTTGAAGA	0.473000														53			6		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71008511	71008511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:71008511C>T	uc003dol.3	-	16	2244	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	FOXP1_uc003dom.3_Missense_Mutation_p.D565N|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.D641N|FOXP1_uc003doo.3_Missense_Mutation_p.D640N|FOXP1_uc003dop.3_Missense_Mutation_p.D641N|FOXP1_uc021xao.1_Missense_Mutation_p.D657N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Missense_Mutation_p.D541N|FOXP1_uc003dok.3_Missense_Mutation_p.D567N|FOXP1_uc003doj.3_Missense_Mutation_p.D643N	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	641					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCCTCTGGATCGAGGGGCTCT	0.498000			T	PAX5	ALL									53			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121053	104121053	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:104121053C>T	uc001tjw.3	+	46	5046	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1620	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F1620F(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGCATTTCGTGAAAGATC	0.512000														251			10		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112912	59112912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:59112912C>T	uc001xdw.3	+	3	1735	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	DACT1_uc010trv.2_Missense_Mutation_p.P243L|DACT1_uc001xdx.3_Missense_Mutation_p.P487L|DACT1_uc010trw.2_Missense_Mutation_p.P243L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	524					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCACTCCTCCCCTGCTGTCT	0.607000														97			11		0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077539	119077539	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:119077539C>T	uc004esh.3	-	0	197	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	10	Ser-rich.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CCTCCCTATCCGGGCTGCGTG	0.701000														46			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072845	9072845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:9072845C>T	uc002mkp.3	-	2	14805	c.14601G>A	c.(14599-14601)atG>atA	p.M4867I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4869	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGTCTTCCATGGTGGAGG	0.458000														130			16		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713770	23713770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:23713770C>T	uc002dma.4	-	9	1335	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	ERN2_uc010bxp.3_Missense_Mutation_p.S389N|ERN2_uc010bxq.1_Missense_Mutation_p.S197N	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	341					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AACAGCAGTGCTGGGTGAGCC	0.577000														134			7		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50547094	50547094	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr22:50547094C>T	uc003bjj.3	+	4	647	c.564C>T	c.(562-564)atC>atT	p.I188I	MOV10L1_uc003bjk.4_Silent_p.I188I|MOV10L1_uc011arp.2_Silent_p.I168I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	188					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.C187S(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGTCTGCATCTCTAGCCTCT	0.562000														109			6		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901185	102901185	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:102901185C>T	uc001ylw.2	+	8	2257	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	TECPR2_uc010awl.3_Silent_p.P677P|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	677							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCGTGGAGCCCAGCCAAGAGC	0.577000														33			3		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241426	163241426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:163241426C>T	uc002uch.2	-	12	2963	c.2734G>A	c.(2734-2736)Gac>Aac	p.D912N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	912					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTGCAGAGTCTTCAGGATCA	0.343000														80			5		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200549	86200550	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:86200549_86200550CC>TT	uc001dlj.3	-	58	4955_4956	c.4880_4881GG>AA	c.(4879-4881)agg>aAA	p.R1627K	COL24A1_uc001dli.3_Missense_Mutation_p.R742K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R927K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1627	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCTTGTCCACCTTGGGGTGTT	0.441000														96			9		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229838	87229838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:87229838C>T	uc003ydq.1	-	2	1138	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	SLC7A13_uc003ydr.1_Missense_Mutation_p.G338E	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	347						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGCAAGGGATCCCAAAGTGAC	0.343000														91			8		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359121	178359121	+	Silent	SNP	C	T	T	rs115468106	by1000genomes	TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:178359121C>T	uc003mjn.1	+	4	1316	c.807C>T	c.(805-807)ccC>ccT	p.P269P	ZFP2_uc010jky.2_Silent_p.P269P|ZFP2_uc010jkx.1_Silent_p.P269P|ZFP2_uc021yjb.1_Silent_p.P269P	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAGAAAAACCCTATGAGTGTA	0.378000														72			6		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242709	60242709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr18:60242709C>T	uc002lip.4	+	12	3395	c.3395C>T	c.(3394-3396)tCa>tTa	p.S1132L	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S602L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1132					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.V1131A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGGAATGTCTCATGTTACAAT	0.483000														41			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237490	140237490	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:140237490C>T	uc003lhx.2	+	0	1857	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	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_uc011dad.2_Silent_p.I619I	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	631	Cadherin 6.				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)			GTGCACGCATCCCGTTTCGCG	0.637000														23			4		0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121157743	121157743	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:121157743C>T	uc001tyz.3	+	4	1111	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	222										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATTGAAAATCCTTACGAGAC	0.443000														52			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495059	179495059	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:179495059G>A	uc021vsy.1	-	187	36711	c.36486C>T	c.(36484-36486)tcC>tcT	p.S12162S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.S5857S|TTN_uc021vta.1_Silent_p.S5790S|TTN_uc021vtb.1_Silent_p.S5665S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13089	Ig-like 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAACAAGGGAGTGTATTT	0.393000														31			4		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220789319	220789319	+	Silent	SNP	T	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:220789319T>C	uc009xdw.3	+	6	1131	c.534T>C	c.(532-534)atT>atC	p.I178I	MARK1_uc001hmn.4_Silent_p.I178I|MARK1_uc010pun.2_Silent_p.I178I|MARK1_uc001hmm.4_Silent_p.I156I	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	178	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAAAGTACATTGTTCACCGTG	0.254000														44			8		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28986090	28986090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr18:28986090G>A	uc002kwr.2	+	11	1822	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	DSG4_uc002kwq.2_Missense_Mutation_p.E563K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	563					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGATTTTATGAAATCCCAAT	0.438000														55			8		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113699951	113699951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:113699951G>A	uc001poh.3	-	9	1060	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	USP28_uc001pog.3_Missense_Mutation_p.P51S|USP28_uc010rwy.2_Missense_Mutation_p.P218S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P343S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	343					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGATCGGAGGGAAGAAGCTCA	0.493000														52			4		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119887018	119887018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:119887018G>A	uc011bjf.2	-	8	1686	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	GPR156_uc011bjg.2_Missense_Mutation_p.P432S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	436						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GCCATGCCAGGATCATTCTGA	0.617000														26			4		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418435	178418435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:178418435C>T	uc003mjr.3	-	2	1026	c.847G>A	c.(847-849)Gat>Aat	p.D283N	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	283					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGATGTCATCCTCATTGGCA	0.592000														167			12		0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73668615	73668616	+	Missense_Mutation	DNP	GT	AA	AA	rs11538014	byFrequency	TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:73668615_73668616GT>AA	uc003uaj.3	-	0	123_124	c.98_99AC>TT	c.(97-99)cac>cTT	p.H33L	RFC2_uc003uak.3_Missense_Mutation_p.H33L	NM_181471	NP_852136	P35250	RFC2_HUMAN	Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA.	33					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GCAGTTCGTAGTGGCCGGCGCT	0.693000														16			3		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223095	99223095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:99223095G>A	uc001tge.2	-	18	3340	c.2923C>T	c.(2923-2925)Cca>Tca	p.P975S	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Missense_Mutation_p.P272S|ANKS1B_uc010svd.2_5'UTR|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_5'UTR|ANKS1B_uc010svf.2_5'UTR|ANKS1B_uc010sve.2_5'UTR|ANKS1B_uc001tgh.4_5'UTR|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Missense_Mutation_p.P201S|ANKS1B_uc009zts.2_Missense_Mutation_p.P201S|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	975						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTAAGTGATGGAGACAACTGA	0.433000														64			10		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925732	55925732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:55925732C>T	uc003pcs.3	-	25	2541	c.2309G>A	c.(2308-2310)gGg>gAg	p.G770E	COL21A1_uc010jzz.3_Missense_Mutation_p.G155E|COL21A1_uc011dxg.2_Missense_Mutation_p.G143E|COL21A1_uc011dxh.2_Missense_Mutation_p.G155E|COL21A1_uc003pcr.3_Missense_Mutation_p.G127E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	770	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTGGATCCCCAGGTTGCCC	0.517000														29			4		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444108	15444108	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:15444108C>T	uc003gno.3	+	2	835	c.576C>T	c.(574-576)ttC>ttT	p.F192F	C1QTNF7_uc011bxb.2_Silent_p.F185F|C1QTNF7_uc003gnp.3_Silent_p.F185F	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	185	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAGGGAAGTTCATCTGTGCTT	0.438000														250			15		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868132	20868132	+	Missense_Mutation	SNP	C	T	T	rs150378278		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:20868132C>T	uc010sii.2	+	6	944	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Missense_Mutation_p.R31C|SLCO1C1_uc001rei.3_Missense_Mutation_p.R197C|SLCO1C1_uc010sik.2_Missense_Mutation_p.R79C	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	197					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.R197C(5)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CAATCTTCTTCGTGGAATAGG	0.413000														128			8		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188318	152188318	+	Silent	SNP	G	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:152188318G>C	uc001ezt.1	-	2	5863	c.5787C>G	c.(5785-5787)ggC>ggG	p.G1929G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1929					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGACGGGAGCCAGACCCAT	0.577000														691			12		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607504	84607504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:84607504C>T	uc004amn.3	+	3	2166	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	707						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						CCGCAGAATCCATGAGTCTCT	0.483000														66			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059723	9059723	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:9059723G>A	uc002mkp.3	-	2	27927	c.27723C>T	c.(27721-27723)gtC>gtT	p.V9241V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9243	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGCTAGGACAGAGGAAG	0.458000														75			8		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811091	5811091	+	Missense_Mutation	SNP	C	T	T	rs149065055		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:5811091C>T	uc010ndi.3	-	6	2793	c.2329G>A	c.(2329-2331)Gat>Aat	p.D777N	NLGN4X_uc004crp.3_Missense_Mutation_p.D760N|NLGN4X_uc010ndh.3_Missense_Mutation_p.D740N|NLGN4X_uc004crq.3_Missense_Mutation_p.D740N|NLGN4X_uc004crr.3_Missense_Mutation_p.D740N|NLGN4X_uc010ndj.3_Missense_Mutation_p.D740N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	740					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D740N(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CACTCGTGATCGTGTTCCAGC	0.577000														75			5		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84217325	84217325	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:84217325G>A	uc002fhn.3	-	2	440	c.198C>T	c.(196-198)ctC>ctT	p.L66L	TAF1C_uc010vnz.2_Intron|TAF1C_uc002fho.3_Intron|TAF1C_uc010voa.2_Intron|TAF1C_uc002fhm.3_5'UTR|TAF1C_uc010vnx.2_Silent_p.L66L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Silent_p.L66L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	66					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCAGCATGGGGAGAGGCCCAG	0.597000														71			4		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560518	178560518	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:178560518G>A	uc003fjd.3	+	4	844	c.501G>A	c.(499-501)agG>agA	p.R167R	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.R167R|KCNMB2_uc003fjf.3_Silent_p.R167R|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Non-coding_Transcript	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	167					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	p.F166I(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AAAACTTCAGGAAGTATCAAC	0.393000														49			4		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135630985	135630985	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:135630985C>A	uc004ezy.3	+	2	622	c.452C>A	c.(451-453)cCc>cAc	p.P151H	MIR934_uc022cev.1_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CATCCCTTCCCCGCTCGGCAC	0.622000														162			12		9.31168e-06	9.40122e-06	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34189858	34189858	+	Silent	SNP	G	A	A	rs5773426		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:34189858G>A	uc001bxm.1	-	18	3117	c.2940C>T	c.(2938-2940)ttC>ttT	p.F980F	CSMD2_uc001bxn.1_Silent_p.F940F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	940	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAAGTCAGGGAACCCTGGCG	0.532000														29			3		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909456	123909456	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:123909456A>G	uc001pzq.1	-	0	253	c.253T>C	c.(253-255)Tcc>Ccc	p.S85P		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S85S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCGCTTGGGGACACCAAGGTC	0.532000														124			7		0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916236	45916236	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:45916236G>A	uc002imd.3	-	4	819	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SCRN2_uc002imf.3_Silent_p.S231S	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	231					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGGGTCAGGGAGAAGATCT	0.662000														142			10		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418737	55418737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:55418737C>T	uc001nhs.1	+	0	358	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGCCTATGATCGTTATGTGGC	0.428000														91			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283967	152283967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:152283967C>T	uc001ezu.1	-	2	3431	c.3395G>A	c.(3394-3396)gGg>gAg	p.G1132E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1132	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)			CCTGGTCCGCCCATGGGCAGA	0.592000									Ichthyosis					307			17		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887447	25887447	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:25887447G>A	uc001isj.3	+	10	2952	c.2892G>A	c.(2890-2892)gcG>gcA	p.A964A	GPR158_uc001isk.3_Silent_p.A339A	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	964						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P963L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAATCCTGCGGAGGAGCCAA	0.463000														117			6		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942294	24942294	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:24942294G>A	uc002dnb.3	-	18	2419	c.2326C>T	c.(2326-2328)Cct>Tct	p.P776S	ARHGAP17_uc002dmw.3_Missense_Mutation_p.P38S|ARHGAP17_uc002dmy.3_Missense_Mutation_p.P221S|ARHGAP17_uc002dmz.3_Missense_Mutation_p.P300S|ARHGAP17_uc002dna.3_Missense_Mutation_p.P503S|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P698S|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P519S	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	776	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	p.P775P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGGGTCTGAGGAGCTGGCAGA	0.607000														113			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416811	179416811	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:179416811C>T	uc021vsy.1	-	283	83337	c.83112G>A	c.(83110-83112)tgG>tgA	p.W27704*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W21399*|TTN_uc021vta.1_Nonsense_Mutation_p.W21332*|TTN_uc021vtb.1_Nonsense_Mutation_p.W21207*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28631	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCATCTTCCAGTTAGTTT	0.423000														91			9		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31558829	31558829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:31558829C>T	uc002rnv.1	-	35	4076	c.3997G>A	c.(3997-3999)Gtc>Atc	p.V1333I		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1333					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTCTTTAGACCCTCACAGAC	0.498000														70			6		0	0	1	0	0
MRPS25	64432	broad.mit.edu	37	3	15093989	15093989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:15093989C>T	uc003bzl.3	-	3	596	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	MRPS25_uc011avl.2_3'UTR|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.	161					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						TTGTACTTCCCCCTCATCTCC	0.602000														167			12		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85422156	85422156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:85422156G>A	uc001dkm.3	-	3	764	c.523C>T	c.(523-525)Cct>Tct	p.P175S	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	175						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TCATTAGAAGGAAACATGGTC	0.398000														120			11		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098868	133098868	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:133098868A>G	uc003epi.3	+	3	583	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	TMEM108_uc003eph.3_Missense_Mutation_p.T105A|TMEM108_uc003epj.1_Missense_Mutation_p.T105A|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	105	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCGACAGTAACCGCCCCCCA	0.667000														63			6		0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1624740	1624740	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:1624740C>T	uc003mtq.3	-	9	1235	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	GMDS_uc021ykn.1_Silent_p.Q311Q	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	341					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AGTTCAGCTTCTGTTTCGCTT	0.667000														28			3		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823612	70823612	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:70823612A>G	uc004eae.2	+	7	986	c.485A>G	c.(484-486)aAc>aGc	p.N162S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	162	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCTGACGACAACAGTGATGAT	0.493000														306			4		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147715	129147715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:129147715C>T	uc022cdu.1	+	2	1011	c.967C>T	c.(967-969)Cct>Tct	p.P323S	BCORL1_uc010nrd.1_Missense_Mutation_p.P225S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	323	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						tcctgtgcccccttcagctcc	0.672000														15			3		0	0	1	0	0
LOC643486	643486	broad.mit.edu	37	X	95592490	95592490	+	RNA	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:95592490C>T	uc010nmx.3	-	0		c.412G>A								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		CTCTGATTTTCTTGAGATGCT	0.373000														43			5		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322527	134322528	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:134322527_134322528CC>TT	uc010hty.3	-	10	1941_1942	c.1879_1880GG>AA	c.(1879-1881)gga>AAa	p.G627K	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.G606K	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	0						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTGCAGCTTCCCTCCCAGTAG	0.520000														92			5		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201012551	201012551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:201012551C>T	uc001gvv.3	-	39	5133	c.4906G>A	c.(4906-4908)Gaa>Aaa	p.E1636K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1636					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCATCTCTTCCATCTCTATC	0.562000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			13		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246848	7246848	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:7246848G>A	uc002ggd.2	+	5	701	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	165	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTCGAGCTGGGTACCGGGGAC	0.652000														65			6		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104056703	104056703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:104056703G>A	uc001tjw.3	+	17	2135	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	650	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACACTGACAGGAGTTCTCATT	0.418000														126			9		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570670	17570670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:17570670G>A	uc001bah.1	+	15	2016	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	PADI1_uc010oco.1_Missense_Mutation_p.E199K|PADI1_uc010ocp.1_Missense_Mutation_p.E157K|PADI1_uc010ocq.1_Missense_Mutation_p.E113K|PADI1_uc009vpb.1_Silent_p.G35G	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	642					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCTGCAGGGGGAGATCCACTG	0.617000														72			4		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861881	25861881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:25861881C>T	uc003nfk.4	-	4	706	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	SLC17A3_uc003nfi.4_Missense_Mutation_p.R121Q|SLC17A3_uc011djz.1_Missense_Mutation_p.R199Q|SLC17A3_uc011dka.1_Missense_Mutation_p.R121Q	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	121					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GAGTCTGCTTCGTTCTTGTGG	0.428000														110			4		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77271293	77271293	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:77271293C>T	uc004ecx.4	+	11	2701	c.2541C>T	c.(2539-2541)atC>atT	p.I847I		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	847					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.D846E(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GTGGAGATATCATTAAAGTAG	0.398000														134			11		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877088	16877088	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:16877088C>T	uc001ioo.3	-	63	10339	c.10287G>A	c.(10285-10287)caG>caA	p.Q3429Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGTGTGGTTCTGGGGGGCTG	0.453000														57			5		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135582869	135582869	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:135582869C>T	uc004ezw.3	+	4	884	c.462C>T	c.(460-462)tcC>tcT	p.S154S	HTATSF1_uc004ezx.3_Silent_p.S154S	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	154	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AACTTATGTCCAAGTTTGGCA	0.303000														98			7		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939527	40939527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:40939527C>T	uc002ibj.3	+	6	1776	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	WNK4_uc010wgx.2_Missense_Mutation_p.L234F|WNK4_uc002ibk.1_Missense_Mutation_p.L342F|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	570					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCAGCCCTTCCTTTTCCGCCA	0.622000														180			22		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901064	123901064	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:123901064C>T	uc001pzp.1	+	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I245I(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCCACTGTATCGTGGTCCTTT	0.537000														68			7		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44130997	44130997	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:44130997G>A	uc002oxc.1	-	3	487	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	146	Ig-like C2-type 1.				cell adhesion	integral to membrane		p.L146F(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ACCGCGGAACGAGGCAGCTGA	0.682000														77			7		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103303	71103303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:71103303G>A	uc002ezr.3	-	13	1992	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	HYDIN_uc010cfz.2_Missense_Mutation_p.S359L|HYDIN_uc021tkq.1_Missense_Mutation_p.S614L|HYDIN_uc010vmc.2_Missense_Mutation_p.S631L|HYDIN_uc010vmd.2_Missense_Mutation_p.S641L|HYDIN_uc002ezw.4_Missense_Mutation_p.S631L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	614										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCACAATATGAAATGCTTTT	0.428000														80			6		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57859603	57859603	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:57859603G>A	uc001snx.3	+	6	751	c.657G>A	c.(655-657)gaG>gaA	p.E219E	GLI1_uc021qzi.1_Silent_p.E178E|GLI1_uc009zpq.3_Silent_p.E91E	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	219					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ATGGGCGGGAGGACCTCGAGA	0.562000														79			7		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960908	73960908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:73960908G>A	uc004eby.3	-	2	4101	c.3484C>T	c.(3484-3486)Cca>Tca	p.P1162S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1162					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACCAGATGGATCATTAAAT	0.373000														95			5		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45885690	45885690	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:45885690G>A	uc002ilx.1	-	22	2699	c.2496C>T	c.(2494-2496)ggC>ggT	p.G832G	OSBPL7_uc002ilw.1_Silent_p.G394G	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	832					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGTTCCCATAGCCTGGCTCGG	0.657000														59			4		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4500618	4500618	+	Splice_Site	SNP	A	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:4500618A>T	uc002fyf.1	+	7	1326	c.1259_splice	c.e7+1	p.E420_splice	SMTNL2_uc002fye.2_Splice_Site_p.E276_splice	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	420	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		ACCATGGCCGAGTGAGTATGG	0.632000														80			8		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68728456	68728456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:68728456C>T	uc003jwq.3	+	3	1359	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	MARVELD2_uc010ixf.3_Missense_Mutation_p.P417S|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	429					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGACACATCCCCCCAGGCCA	0.478000														51			5		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398581	10398581	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:10398581G>A	uc002gmo.3	-	35	5317	c.5223C>T	c.(5221-5223)atC>atT	p.I1741I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1741						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTCTCCCTGGATTTGGGAAA	0.448000														116			6		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994211	140994211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:140994211C>T	uc004fbt.3	+	3	1345	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	341							protein binding	p.P341S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCTATGACCTC	0.468000										HNSCC(15;0.026)				245			21		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583956	35583956	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:35583956C>T	uc003xjr.2	+	9	1918	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	UNC5D_uc003xjs.2_Silent_p.I525I|UNC5D_uc003xju.2_Silent_p.I106I|UNC5D_uc003xjt.1_Silent_p.I288I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	530					apoptosis|axon guidance	integral to membrane	receptor activity	p.I525I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCCCTACATCCAAAATCTGT	0.473000														98			7		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413745	72413745	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:72413745C>T	uc003twk.2	+	10	3213	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	POM121_uc003twj.3_Silent_p.S806S|POM121_uc010lam.1_Silent_p.S806S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1071	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657000														64			4		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282971	152282971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:152282971C>T	uc001ezu.1	-	2	4427	c.4391G>A	c.(4390-4392)gGa>gAa	p.G1464E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1464	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)			TCCTTGTCTTCCTCCAGTGCT	0.567000									Ichthyosis					246			35		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176852083	176852083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:176852083G>A	uc001glc.3	-	19	3486	c.3274C>T	c.(3274-3276)Cct>Tct	p.P1092S	ASTN1_uc001glb.1_Missense_Mutation_p.P1092S|ASTN1_uc001gld.1_Missense_Mutation_p.P1092S	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1100	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATTGCACAAGGAGACTTTGCT	0.493000														65			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076180	9076180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:9076180C>T	uc002mkp.3	-	2	11470	c.11266G>A	c.(11266-11268)Ggg>Agg	p.G3756R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3757	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q3755Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTGGCCCCCTGAGGAGCT	0.532000														119			7		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295800	212295800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:212295800C>T	uc002veg.1	-	20	2611	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	ERBB4_uc002veh.1_Missense_Mutation_p.R838Q|ERBB4_uc010zji.1_Missense_Mutation_p.R828Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R828Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	838	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGAACGAGTCGTCTTTCTTC	0.393000										TSP Lung(8;0.080)				88			7		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383212	152383212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:152383212C>T	uc001ezx.2	-	2	420	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	116					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCTGTCCTTCGCCCAGC	0.617000														350			17		0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83245	83245	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrGL000219.1:83245T>C	uc022brb.1	-	3	422	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GCTGTTTTACTTTTTGCTTCT	0.363000														40			3		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354403	42354403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:42354403C>T	uc010xwe.2	+	6	862	c.779C>T	c.(778-780)cCc>cTc	p.P260L	DMRTC2_uc002orr.1_Missense_Mutation_p.P137L|DMRTC2_uc002ors.3_Missense_Mutation_p.P260L	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	260	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						ATACTCCAGCCCTGTGGCACC	0.532000														244			24		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416478	9416478	+	Silent	SNP	C	T	T	rs34042091		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:9416478C>T	uc010oae.2	+	1	867	c.528C>T	c.(526-528)tcC>tcT	p.S176S	SPSB1_uc001apv.3_Silent_p.S176S	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	176	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCTGACTCCTTCCTGGTAG	0.532000														123			14		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889204	147889204	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:147889204G>A	uc021yfj.1	-	4	938	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HTR4_uc021yfg.1_Silent_p.F297F|HTR4_uc021yfh.1_Silent_p.F297F|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.F297F|HTR4_uc011dby.1_Silent_p.F297F|HTR4_uc003lpn.3_Silent_p.F297F|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.F297F	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	297					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CGAGCCAGAGGAAAGCAGTCC	0.488000														57			4		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176434	104176434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:104176434C>T	uc001kvg.1	-	1	889	c.362G>A	c.(361-363)gGg>gAg	p.G121E	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.G121E|PSD_uc001kvi.1_Missense_Mutation_p.G121E|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	121	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACTCAAGCCCCCTGGAGCAGG	0.657000														50			10		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894466	166894466	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:166894466C>T	uc002udo.4	-	16	2993	c.2766G>A	c.(2764-2766)aaG>aaA	p.K922K	SCN1A_uc010fpk.3_Silent_p.K894K|SCN1A_uc021vsb.1_Silent_p.K911K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	922						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CACTGGCGATCTTGCAGACAC	0.498000														106			14		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589843	140589843	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:140589843C>T	uc003liz.3	+	0	1553	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	PCDHB12_uc011dak.2_Missense_Mutation_p.S118F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	455					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACTTCCTACGCCCTG	0.612000														131			5		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100129997	100129997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:100129997C>T	uc003huo.2	-	5	750	c.656G>A	c.(655-657)aGg>aAg	p.R219K	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.R10K|ADH6_uc003hup.4_Missense_Mutation_p.R219K|ADH6_uc010ile.3_Missense_Mutation_p.R219K	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	219					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.A218P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCCAATGATCCTGGCTGCTCC	0.488000														263			22		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566609	55566609	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:55566609C>T	uc010qhq.2	-	34	5168	c.4773G>A	c.(4771-4773)ctG>ctA	p.L1591L	PCDH15_uc010qhr.2_Silent_p.L1586L	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L1592L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATAATGTGTTCAGAGGTACAT	0.473000										HNSCC(58;0.16)				213			13		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170629	159170629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:159170629G>A	uc001ftl.2	+	8	1293	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CADM3_uc001ftk.2_Missense_Mutation_p.D406N|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	372					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGCTCCGACGATGCTCCAGA	0.572000														83			6		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039151	184039151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:184039151C>T	uc003fnp.3	+	9	1050	c.779C>T	c.(778-780)tCg>tTg	p.S260L	EIF4G1_uc003fno.2_Missense_Mutation_p.S201L|EIF4G1_uc010hxw.2_Missense_Mutation_p.S96L|EIF4G1_uc010hxx.3_Missense_Mutation_p.S267L|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.S267L|EIF4G1_uc003fnq.3_Missense_Mutation_p.S173L|EIF4G1_uc003fnr.3_Missense_Mutation_p.S96L|EIF4G1_uc003fns.3_Missense_Mutation_p.S220L|EIF4G1_uc003fnv.4_Missense_Mutation_p.S260L|EIF4G1_uc003fnw.3_Missense_Mutation_p.S267L|EIF4G1_uc003fnx.3_Missense_Mutation_p.S64L	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	260					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCAGCCTTCGTCGCCTTCT	0.572000														67			4		0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640337	51640337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:51640337G>A	uc004dpn.3	+	5	1814	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	MAGED1_uc004dpm.3_Missense_Mutation_p.D486N|MAGED1_uc004dpo.3_Missense_Mutation_p.D486N	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	486	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGCTTAAGGACTACACAAA	0.428000										Multiple Myeloma(10;0.10)				70			5		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135392921	135392921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:135392921C>T	uc003vtb.3	-	2	995	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SLC13A4_uc003vta.3_Nonsense_Mutation_p.W102*	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	102						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TATGCAGGTTCCACTTCTCCA	0.592000														131			12		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					59			5		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567238	136567238	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:136567238G>A	uc002tuu.1	-	7	2690	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	893	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATCTCTTTCGAACTTGGGTT	0.522000														118			6		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228473847	228473847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:228473847C>T	uc009xez.1	+	33	9117	c.9073C>T	c.(9073-9075)Cgt>Tgt	p.R3025C	OBSCN_uc001hsn.3_Missense_Mutation_p.R3025C|OBSCN_uc001hsq.1_Missense_Mutation_p.R281C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3025	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.R3025P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCACCTTCCGTTGCCGGAT	0.632000														17			3		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962881	94962881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:94962881C>T	uc001ydj.3	-	3	1530	c.734G>A	c.(733-735)gGc>gAc	p.G245D		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	245					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTGGTATATGCCACTACGGAA	0.438000														147			9		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883382	52883382	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:52883382G>A	uc003gzi.3	-	0	405	c.398C>T	c.(397-399)tCc>tTc	p.S133F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	133						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CACCCATGAGGACTTAGGACT	0.438000														125			10		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67377050	67377050	+	Missense_Mutation	SNP	C	T	T	rs151144350		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:67377050C>T	uc001omj.2	+	3	607	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	NDUFV1_uc010rpv.1_Missense_Mutation_p.R51C|NDUFV1_uc001omk.4_Missense_Mutation_p.R143C|NDUFV1_uc001oml.2_Missense_Mutation_p.R145C|NDUFV1_uc009yrz.1_Missense_Mutation_p.R51C|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding	p.R152S(2)|p.A151T(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CATGGGCGCCCGCGCTGCCTA	0.607000														151			16		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121698406	121698406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:121698406G>A	uc003idn.3	-	12	1724	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PRDM5_uc003ido.3_Missense_Mutation_p.P461S|PRDM5_uc010ine.3_Missense_Mutation_p.P461S	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	492					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCACAATATGGACAGATTTTC	0.383000														77			5		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128522	161128522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:161128522C>T	uc003lyu.2	+	8	1443	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_uc003lyv.2_Missense_Mutation_p.H140Y	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.H369Y(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCCAAATATCATCTGAAGAA	0.378000										TCGA Ovarian(5;0.080)				79			4		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936403	38936403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:38936403C>T	uc021wvy.1	-	14	2655	c.2456G>A	c.(2455-2457)aGa>aAa	p.R819K	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	819					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTTCCATTTCTTTCCTCATT	0.448000														55			7		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949935	7949935	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:7949935A>C	uc010rbh.2	-	0	275	c.275T>G	c.(274-276)aTt>aGt	p.I92S		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCAAAAGAAATTGTAGTTTT	0.428000														123			15		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301039	110301040	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:110301039_110301040GG>AA	uc001dyr.2	-	7	840_841	c.615_616CC>TT	c.(613-618)tcccca>tcTTca	p.P206S	EPS8L3_uc001dys.2_Missense_Mutation_p.P206S|EPS8L3_uc001dyq.2_Missense_Mutation_p.P207S|EPS8L3_uc009wfm.2_Missense_Mutation_p.P173S|EPS8L3_uc009wfn.2_Missense_Mutation_p.P181S|EPS8L3_uc009wfo.2_Missense_Mutation_p.P153S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	206	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGGCCTTGGGGATGGTGGGA	0.594000														158			13		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705032	103705032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr13:103705032G>A	uc001vpy.4	-	2	1120	c.523C>T	c.(523-525)Cct>Tct	p.P175S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	175					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGGAAACAGGAACAACGAGA	0.393000														56			4		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:189068456C>T	uc003izm.1	+	5	1452	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	TRIML1_uc003izn.1_Missense_Mutation_p.S170F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562000														95			11		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7776915	7776915	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:7776915A>C	uc001ijs.3	+	14	1980	c.1818A>C	c.(1816-1818)agA>agC	p.R606S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	606					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R606I(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCGCCAAGAGAAGAATTACAA	0.547000														120			9		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748122	124748122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:124748122G>A	uc011bke.2	-	1	595	c.527C>T	c.(526-528)tCa>tTa	p.S176L	HEG1_uc003ehs.4_Missense_Mutation_p.S176L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	176						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGTTCTACTTGAAGAGCCGCT	0.502000														17			4		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116856657	116856657	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:116856657G>A	uc004bif.3	-	8	1022	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	395	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGTCCAGCTGGAACTGCAGG	0.602000														92			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395939	179395939	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:179395939G>A	uc021vsy.1	-	306	97924	c.97699C>T	c.(97699-97701)Cca>Tca	p.P32567S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P26262S|TTN_uc021vta.1_Missense_Mutation_p.P26195S|TTN_uc021vtb.1_Missense_Mutation_p.P26070S|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33494	Ig-like 143.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGACCGTGGCTTTGTTAGA	0.473000														146			7		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057744	180057744	+	Missense_Mutation	SNP	C	T	T	rs138831198	byFrequency	TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:180057744C>T	uc003mlz.4	-	2	290	c.211G>A	c.(211-213)Gga>Aga	p.G71R	FLT4_uc003mma.4_Missense_Mutation_p.G71R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.G71R|FLT4_uc011dgz.1_Missense_Mutation_p.G71R|FLT4_uc011dha.1_Missense_Mutation_p.G71R	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	71	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.G71R(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTTGTCTCCGGTGGCTGGC	0.672000														36			5		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071651	53071652	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:53071651_53071652GG>AA	uc003xqz.2	-	9	1768_1769	c.1612_1613CC>TT	c.(1612-1614)cca>TTa	p.P538L	ST18_uc011ldq.1_Missense_Mutation_p.P185L|ST18_uc011ldr.1_Missense_Mutation_p.P503L|ST18_uc011lds.1_Missense_Mutation_p.P443L|ST18_uc003xra.2_Missense_Mutation_p.P538L|ST18_uc003xrb.2_Missense_Mutation_p.P538L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	538						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAATTTCACTGGATTTGGAAAA	0.416000														62			4		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917616	97917616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:97917616C>T	uc001klp.3	+	5	2394	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P513S|ZNF518A_uc001klr.3_Missense_Mutation_p.P513S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGCAGCTACTCCATTTTCATG	0.348000														114			9		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891856	44891856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:44891856C>T	uc010xxa.2	-	3	615	c.572G>A	c.(571-573)aGc>aAc	p.S191N	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S184N	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CCAACTGAGGCTGTCATCATG	0.453000														89			9		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899636	233899636	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:233899636C>T	uc010zmn.2	+	1	1012	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	338							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTCAGACCTCCAGAGCATGGG	0.607000														139			7		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:157387990C>T	uc003wno.3	-	16	2557	c.2436G>A	c.(2434-2436)agG>agA	p.R812R	PTPRN2_uc003wnp.3_Silent_p.R795R|PTPRN2_uc003wnq.3_Silent_p.R783R|PTPRN2_uc003wnr.3_Silent_p.R774R|PTPRN2_uc011kwa.2_Silent_p.R835R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	812	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R812R(2)|p.P811Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGCGGGGTTCCTCGGGTCGT	0.532000														51			9		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15517307	15517307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:15517307C>T	uc002gor.1	-	8	1978	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	CDRT1_uc002gov.4_Missense_Mutation_p.M237I			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	237										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ACAGCCTATTCATTTCGGATA	0.488000														103			4		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622241	41622241	+	Missense_Mutation	SNP	G	A	A	rs115815874	byFrequency	TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:41622241G>A	uc002opu.1	+	1	204	c.148G>A	c.(148-150)Gac>Aac	p.D50N	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.D50N|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	50					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTGCTCCCAAGACATGCTGAC	0.567000														223			13		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9079293	9079293	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:9079293G>A	uc009vmo.1	-	3	411	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	137						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACCACTCGGGAAAAGACGA	0.587000														41			5		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749005	152749005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:152749005G>A	uc010pdv.2	+	0	158	c.158G>A	c.(157-159)gGc>gAc	p.G53D		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	53					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGCTGTGGCTCCAGCTCT	0.677000														82			9		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848200	54848200	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:54848200G>A	uc002qfj.3	-	5	1224	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	LILRA4_uc002qfi.3_Silent_p.H323H	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	389	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGTCCCCGCGTGGGCTGAGG	0.627000														169			9		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361551	105361551	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:105361551G>A	uc003ylx.1	+	1	820	c.771G>A	c.(769-771)agG>agA	p.R257R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	257					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTGATGAAAGGGAGAGACATC	0.473000														75			6		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129156903	129156903	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:129156903C>T	uc022cdu.1	+	4	3683	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F	BCORL1_uc010nrd.1_Silent_p.F1115F|BCORL1_uc004evc.2_5'Flank	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1213					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGAGCAGTTTCCGTGACTTTA	0.478000														168			11		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055334	64055334	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:64055334C>T	uc010rni.2	+	4	751	c.723C>T	c.(721-723)ttC>ttT	p.F241F	GPR137_uc010rnj.2_Silent_p.F183F|GPR137_uc001nze.2_Silent_p.F183F|GPR137_uc001nzf.3_Silent_p.F183F|GPR137_uc001nzh.2_Silent_p.F183F|GPR137_uc001nzi.3_Silent_p.F183F|GPR137_uc021qkt.1_Silent_p.F183F	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	183						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACTCCCTGTTCGTCATCTGCG	0.662000														56			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755051	140755051	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:140755051G>A	uc003ljy.2	+	0	1401	c.1401G>A	c.(1399-1401)agG>agA	p.R467R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.R467R	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	469	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCCAGGGGTGCCTCCA	0.557000														190			12		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57738925	57738925	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:57738925G>A	uc002emi.3	+	5	926	c.837G>A	c.(835-837)agG>agA	p.R279R	CCDC135_uc002emj.3_Silent_p.R279R|CCDC135_uc002emk.3_Silent_p.R214R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	279						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCGGCTGAGGGAGGAGGAGG	0.577000														29			5		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097377	69097377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:69097377G>A	uc011bfx.2	-	1	726	c.479C>T	c.(478-480)tCa>tTa	p.S160L	TMF1_uc003dnn.3_Missense_Mutation_p.S160L	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	160					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGTTTCCCCTGAAACACACAA	0.413000														175			13		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53990500	53990500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:53990500G>A	uc001cvr.1	-	4	1585	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	340					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACGTGCTTGCGGAGGGAGCTG	0.632000														111			5		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234621888	234621888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:234621888G>A	uc002vuw.3	+	0	251	c.251G>A	c.(250-252)tGg>tAg	p.W84*	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Nonsense_Mutation_p.W84*	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	83					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCCATTTCATGGACCCAGGAC	0.448000														74			8		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634003	70634003	+	Silent	SNP	C	T	T	rs139974573		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:70634003C>T	uc001xly.3	-	1	1891	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	SLC8A3_uc001xlw.3_Silent_p.K379K|SLC8A3_uc001xlx.3_Silent_p.K379K|SLC8A3_uc001xlz.3_Silent_p.K379K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	379					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.K379K(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGCTGGAGGCCTTCTTGGCTT	0.517000														105			6		0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96728497	96728497	+	Splice_Site	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:96728497C>T	uc001tep.2	-	2	750	c.118_splice	c.e2+1	p.E40_splice	CDK17_uc009ztk.3_Splice_Site_p.E40_splice|CDK17_uc010svb.2_Intron	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	40							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AAATATTTACCATTATCCTTG	0.353000														25			3		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820550	43820551	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr15:43820550_43820551GG>AA	uc001zrt.3	+	3	7346_7347	c.6879_6880GG>AA	c.(6877-6882)atggaa>atAAaa	p.2293_2294ME>IK		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2293						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCAGGAATGGAACCAGCTGC	0.614000														34			3		0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39223219	39223219	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:39223219G>A	uc001rls.1	-	5	453	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	123								p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTGAACCAACGATCTCTCCCA	0.328000														172			17		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100497	168100497	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:168100497G>A	uc002udx.3	+	8	2684	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.E690E|XIRP2_uc010fpq.3_Silent_p.E643E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	690					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACAACGTGAGGAGATAATAG	0.358000														96			9		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985083	67985083	+	Silent	SNP	G	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:67985083G>T	uc010vkj.1	-	7	1303	c.1263C>A	c.(1261-1263)tcC>tcA	p.S421S	SLC12A4_uc010ceu.2_Silent_p.S413S|SLC12A4_uc010vkh.1_Silent_p.S388S|SLC12A4_uc002euz.2_Silent_p.S419S|SLC12A4_uc010vki.1_Silent_p.S419S|SLC12A4_uc002eva.2_Silent_p.S419S|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	419					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACGGTGAAGGATGTGGCGA	0.632000														110			9		4.68919e-08	4.76482e-08	1	1	0
AP4E1	23431	broad.mit.edu	37	15	51293268	51293268	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr15:51293268C>T	uc001zyx.2	+	19	3248	c.3141C>T	c.(3139-3141)tcC>tcT	p.S1047S	AP4E1_uc021skz.1_Silent_p.S972S|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1047					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTGGTTATCCTTCGCAAATG	0.318000														81			4		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624555	624555	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:624555G>T	uc002cho.3	+	1	619	c.481G>T	c.(481-483)Ggc>Tgc	p.G161C	PIGQ_uc010bqw.3_Missense_Mutation_p.G161C|PIGQ_uc002chm.3_Missense_Mutation_p.G161C|PIGQ_uc002chn.3_Missense_Mutation_p.G161C|PIGQ_uc010uui.2_Missense_Mutation_p.G175C	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	161					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGCACGGGGGGCCTGGCTGC	0.662000														4			5		0.014758	0.0148523	1	1	0
POM121C	100101267	broad.mit.edu	37	7	75068442	75068442	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:75068442G>A	uc003udk.4	-	5	1173	c.288C>T	c.(286-288)gtC>gtT	p.V96V	POM121C_uc010lde.1_Silent_p.V338V	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	338	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AAGAAGCGGGGACTCCACTGG	0.473000														178			28		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683143	100683143	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:100683143C>T	uc003uxp.1	+	2	8499	c.8446C>T	c.(8446-8448)Cct>Tct	p.P2816S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2816	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTAGTATGCCTGTCAACCA	0.498000														364			60		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135445712	135445712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:135445712C>T	uc004ezu.1	+	12	7645	c.7354C>T	c.(7354-7356)Cct>Tct	p.P2452S	GPR112_uc010nsb.1_Missense_Mutation_p.P2247S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2452					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAAGAACTTCCTGACAAGAT	0.348000														57			6		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535602	52535602	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:52535602G>A	uc001wzo.3	-	0	345	c.111C>T	c.(109-111)ttC>ttT	p.F37F	NID2_uc010tqs.2_Silent_p.F37F|NID2_uc010tqt.1_Silent_p.F37F|NID2_uc001wzp.3_Silent_p.F37F	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	37						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCCGTGTGGGAAGAGCTCGT	0.667000														52			7		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179742709	179742709	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:179742709G>A	uc002une.2	-	11	1999	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CCDC141_uc002ung.3_Silent_p.F627F|CCDC141_uc002unf.1_Silent_p.F106F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	52							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTAAATTAAGGAACTCAAGCC	0.368000														87			4		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977559	71977559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:71977559C>T	uc001swl.3	+	17	1817	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	LGR5_uc001swm.3_Missense_Mutation_p.S566F|LGR5_uc021rar.1_Missense_Mutation_p.S518F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	590						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTGTACATTTCCCCCATTAAA	0.502000														110			8		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098851	48098851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr20:48098851C>T	uc002xur.1	-	0	333	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	KCNB1_uc002xus.1_Missense_Mutation_p.R56Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	56					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTGCCCAGCCGCGTGCGGGG	0.677000														12			3		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110901981	110901981	+	Splice_Site	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:110901981G>A	uc003hzy.4	+	15	2674	c.2222_splice	c.e15-1	p.G741_splice	EGF_uc011cfu.2_Splice_Site_p.G699_splice|EGF_uc011cfv.2_Splice_Site_p.G741_splice|EGF_uc010imk.3_5'UTR	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	741	EGF-like 5.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCTCTACTAGGAGCAGATCC	0.408000														70			7		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682439	114682439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:114682439C>T	uc021osa.1	-	1	388	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	SYT6_uc021orz.1_Missense_Mutation_p.E19K|SYT6_uc001eev.3_Missense_Mutation_p.E19K	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	104					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGGGCTTCCAAGGGGGGA	0.602000														140			10		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570448	53570448	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:53570448G>A	uc003xre.4	-	14	2499	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	RB1CC1_uc003xrf.4_Silent_p.S647S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	647					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGACTGTGGGGATGTCTGAC	0.433000														39			6		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327714	67327714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:67327714C>T	uc002esu.2	-	11	2002	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	KCTD19_uc002est.2_Missense_Mutation_p.E423K|KCTD19_uc010vjj.1_Missense_Mutation_p.E394K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	651						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E651K(2)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCTGGAATTCCCACTGTTTG	0.582000														143			9		0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307569	146307569	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:146307569C>T	uc010hvc.3	-	5	1652	c.648G>A	c.(646-648)ggG>ggA	p.G216G	PLSCR5_uc010hvb.3_Silent_p.G204G	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA.	216										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTGAAATCTTCCCAATTGTAA	0.333000														77			6		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771516	143771516	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:143771516C>T	uc011ktx.2	+	0	204	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGCGGTCGTCGACATCGCCT	0.577000														71			9		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711369	42711369	+	Missense_Mutation	SNP	G	A	A	rs45590635		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:42711369G>A	uc021xxv.1	+	6	837	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GHR_uc003jmt.3_Missense_Mutation_p.E227K|GHR_uc003jmu.3_Missense_Mutation_p.E227K|GHR_uc003jmv.2_Missense_Mutation_p.E227K|GHR_uc021xxw.1_Missense_Mutation_p.E227K|GHR_uc021xxx.1_Missense_Mutation_p.E227K|GHR_uc021xxy.1_Missense_Mutation_p.E227K|GHR_uc021xxz.1_Missense_Mutation_p.E227K|GHR_uc021xya.1_Missense_Mutation_p.E227K|GHR_uc021xyb.1_Missense_Mutation_p.E227K|GHR_uc021xyc.1_Missense_Mutation_p.E227K|GHR_uc011cpq.2_Missense_Mutation_p.E40K|GHR_uc021xyd.1_Missense_Mutation_p.E205K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	227	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TAAGGAATATGAAGTGCGTGT	0.398000														120			6		0	0	1	0	0
UBE2A	7319	broad.mit.edu	37	X	118709340	118709340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:118709340C>T	uc004erl.3	+	2	304	c.128C>T	c.(127-129)cCt>cTt	p.P43L	UBE2A_uc004erm.3_Missense_Mutation_p.P43L	NM_003336	NP_861442	P49459	UBE2A_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA.	43					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TGTTGCAGGCCTGAAGGGACC	0.537000								Rad6 pathway						108			9		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746680	95746680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:95746680C>T	uc003kls.2	-	7	1132	c.893G>A	c.(892-894)gGg>gAg	p.G298E	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.G251E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	298	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACCCCTTCCCCTGTCTCCC	0.478000														90			12		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046490	69046490	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:69046490G>C	uc003xxv.1	+	31	3990	c.3963G>C	c.(3961-3963)caG>caC	p.Q1321H		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.Q1321*(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCACTTTCAGTCACTTCTGT	0.428000														57			5		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851902	46851902	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:46851902G>A	uc003oyo.3	-	4	724	c.435C>T	c.(433-435)ttC>ttT	p.F145F	GPR116_uc003oyp.3_Silent_p.F145F|GPR116_uc003oyq.3_Silent_p.F145F|GPR116_uc003oyr.2_Silent_p.F145F	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	145					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCCCTGGGAGGAAGACGTCAC	0.498000														114			5		0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060513	56060513	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:56060513T>A	uc002ivf.1	-	1	418	c.275A>T	c.(274-276)cAc>cTc	p.H92L	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	92					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAGGATTCGTGGCGCCTCAG	0.502000														87			7		0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285685	100285685	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:100285685G>A	uc003uwg.1	-	1	1093	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	28										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCATGGCAGGGGACGGGGGTG	0.632000														68			16		0	0	1	0	0
HAMP	57817	broad.mit.edu	37	19	35775748	35775748	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:35775748G>A	uc002nyw.3	+	1	218	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	49					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGCCAGCTGGATGGTGAGCG	0.617000														68			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579905	179579905	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:179579905G>A	uc021vsy.1	-	86	22501	c.22276C>T	c.(22276-22278)Ccc>Tcc	p.P7426S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4087S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8353	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAATGGGGGAGTGCCCTGA	0.428000														164			14		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245397	46245397	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:46245397G>A	uc003cph.1	-	1	479	c.408C>T	c.(406-408)gtC>gtT	p.V136V	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.V136V	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	136					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACACGGCGTGGACGATGGCCA	0.517000														53			4		0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266642	113266642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:113266642C>T	uc001ecu.3	+	3	410	c.341C>T	c.(340-342)tCg>tTg	p.S114L	FAM19A3_uc001ecv.3_Silent_p.I91I|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Non-coding_Transcript	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA.	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCTCCATCGTCCTGCAGA	0.627000														37			6		0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838545	155838546	+	Missense_Mutation	DNP	CC	TT	TT	rs150921882		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:155838545_155838546CC>TT	uc003far.2	+	0	209_210	c.145_146CC>TT	c.(145-147)ccc>TTc	p.P49F	KCNAB1_uc011bon.1_Missense_Mutation_p.P49F	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	49						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGCCTTAGTCCCTCAGGGGAA	0.540000														56			4		0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303676	134303676	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:134303676C>T	uc004eyk.1	-	1	777	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CXorf48_uc004eyl.1_Missense_Mutation_p.G41R	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	41										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTGACAACTCCCTGCACAGTT	0.418000														35			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21151925	21151925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:21151925C>T	uc010vbe.2	-	4	628	c.628G>A	c.(628-630)Gat>Aat	p.D210N	DNAH3_uc002die.2_Missense_Mutation_p.D181N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	210	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L209R(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACATGACATCGAGCTGCTGT	0.483000														105			8		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20060745	20060745	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:20060745C>T	uc010nfo.2	-	7	999	c.882G>A	c.(880-882)gtG>gtA	p.V294V	MAP7D2_uc004czq.2_Silent_p.V138V|MAP7D2_uc011mji.2_Silent_p.V201V|MAP7D2_uc004czr.2_Silent_p.V253V|MAP7D2_uc011mjj.2_Silent_p.V208V	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	253										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCACCTTCTCCACCTGTAGGG	0.483000														158			8		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204836	5204836	+	RNA	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:5204836C>T	uc009xhz.2	-	1		c.324G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TAGAATATTTCCTCTCTCTTG	0.413000														125			8		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413800	2413800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:2413800G>A	uc010xgx.2	+	8	1255	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	TMPRSS9_uc002lvv.1_Missense_Mutation_p.G453R	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	419	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCGTCCAGGGGTCTATGC	0.667000														61			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070090	9070090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:9070090C>T	uc002mkp.3	-	2	17560	c.17356G>A	c.(17356-17358)Gac>Aac	p.D5786N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5788	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCTGGTGTCCCTTAATCCA	0.473000														81			6		0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323261	57323261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:57323261C>T	uc010sqw.2	-	2	781	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	213						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCCAGGTTCTCCTTGCCGAGA	0.542000														108			9		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62393437	62393437	+	Silent	SNP	T	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:62393437T>G	uc001dab.3	+	26	3720	c.3606T>G	c.(3604-3606)ccT>ccG	p.P1202P	INADL_uc009waf.1_Silent_p.P1202P|INADL_uc001daa.2_Silent_p.P1202P|INADL_uc001dad.3_Silent_p.P899P|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1202					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGAAACTTCCTCCTCCTTATA	0.418000														62			4		0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80043929	80043929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:80043929C>T	uc004aku.3	-	4	1140	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCTTTCCGATCGTTGGCCACC	0.453000														156			13		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177007	71177007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:71177007G>A	uc003tvy.3	+	10	1673	c.1673G>A	c.(1672-1674)gGa>gAa	p.G558E	WBSCR17_uc003tvz.3_Missense_Mutation_p.G257E	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	558	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCCAGAATGGAGCCATCATG	0.577000														96			7		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786832	19786832	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:19786832G>A	uc003zoa.2	-	0	186	c.33C>T	c.(31-33)tcC>tcT	p.S11S	SLC24A2_uc003zob.2_Silent_p.S11S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	11					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATTTCTCTAGGGAAGTGATGG	0.423000														137			11		0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44954020	44954020	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:44954020G>A	uc002ikw.1	+	3	1047	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	337					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CAGGTGCAGTGGTGCTGCTAC	0.652000														25			4		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6851090	6851090	+	Missense_Mutation	SNP	G	A	A	rs139451898		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr18:6851090G>A	uc002knc.3	+	3	3656	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ARHGAP28_uc002kne.3_Missense_Mutation_p.E42K|ARHGAP28_uc010wzi.2_Silent_p.E31E|ARHGAP28_uc002knf.3_Missense_Mutation_p.E33K	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGAAGAAAGAGAGCTTCCAAG	0.448000														43			3		0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003856	155003856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:155003856C>T	uc022cio.1	+	0	323	c.323C>T	c.(322-324)tCa>tTa	p.S108L	SPRY3_uc004fnq.1_Missense_Mutation_p.S108L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	108					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCCTCACCTTCAGGCCAATCC	0.552000														98			6		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30856031	30856031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr22:30856031C>T	uc003ahy.3	-	11	1269	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	SEC14L3_uc003ahz.3_Missense_Mutation_p.D317N|SEC14L3_uc003aia.3_Missense_Mutation_p.D335N|SEC14L3_uc003aib.3_Missense_Mutation_p.D335N	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	394						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGCTCCTTATCATATTTCTGC	0.507000														41			4		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921606	130921606	+	Missense_Mutation	SNP	G	C	C	rs148090124		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:130921606G>C	uc001uil.2	-	9	2052	c.1836C>G	c.(1834-1836)gaC>gaG	p.D612E	RIMBP2_uc001uim.3_Missense_Mutation_p.D520E	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	612	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCAGGTGCTCGTCTTTGGTTT	0.667000														17			3		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822825	38822825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr22:38822825G>A	uc003avs.1	-	1	1410	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	KCNJ4_uc003avt.1_Missense_Mutation_p.S438F|KCNJ4_uc021wpp.1_Missense_Mutation_p.S438F	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	438					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCTGCGGTAGGAGATGTTGTC	0.672000														130			12		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576493	158576493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:158576493G>A	uc010pio.2	+	0	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGCTGGGGGGGACCAGGCTAT	0.552000														217			21		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065210	23065210	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr20:23065210G>A	uc002wsv.3	-	0	1768	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	540					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGACGCCTGGGGACCCACTGG	0.647000														72			7		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769143	148769143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:148769143G>A	uc003wfh.2	-	3	858	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	ZNF786_uc011kuk.1_Missense_Mutation_p.R204W|ZNF786_uc003wfi.2_Missense_Mutation_p.R155W	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACGCCACACCGGAAGTGCCTC	0.652000														23			3		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169566292	169566292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:169566292C>T	uc001ggi.4	-	10	1893	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	SELP_uc001ggh.3_Missense_Mutation_p.G445R|SELP_uc009wvr.3_Missense_Mutation_p.G610R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	610	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTATTGGGCCCCTCCAGCTTA	0.478000														63			9		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153272	105153272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:105153272G>A	uc004emd.3	+	12	1942	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	NRK_uc010npc.1_Missense_Mutation_p.E215K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	547	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAGGTGCCTGAACAAGAGCT	0.582000										HNSCC(51;0.14)				27			3		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:176738746G>A	uc001gkz.3	+	15	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453000														55			8		0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006813	24006813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:24006813G>A	uc004dba.4	-	3	1296	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	347										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAATACTTTGGAAGAAGCATG	0.488000														132			13		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:162751222C>T	uc002ubx.4	+	10	1412	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R422C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R391C|SLC4A10_uc002uby.4_Missense_Mutation_p.R380C	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTAAAGATCGTAATGACTT	0.328000														44			6		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21900198	21900198	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:21900198G>A	uc001bet.3	+	8	1160	c.903G>A	c.(901-903)agG>agA	p.R301R	ALPL_uc010odo.2_Silent_p.R246R|ALPL_uc010odp.2_Silent_p.R224R|ALPL_uc010odn.2_Silent_p.R249R|ALPL_uc001beu.4_Silent_p.R301R	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	301					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGCTGAACAGGAACAACGTGA	0.597000														22			3		0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857708	101857708	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:101857708C>T	uc022cbb.1	+	0	639	c.639C>T	c.(637-639)ccC>ccT	p.P213P	ARMCX5_uc004ejg.3_Silent_p.P213P|ARMCX5_uc022caw.1_Silent_p.P213P|ARMCX5_uc022cax.1_Silent_p.P213P|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Silent_p.P213P|ARMCX5_uc022cba.1_Silent_p.P213P|ARMCX5_uc004ejh.3_Silent_p.P213P	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	213							binding	p.P213P(2)|p.K212I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CACACAAACCCACACTTACTA	0.473000														111			12		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480359	102480359	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:102480359C>G	uc002tbc.3	+	16	2321	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S563C|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S543C|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	582					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGTGACCCTTCTCCCAAATTT	0.507000														308			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9927997	9927997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr16:9927997G>A	uc010uym.2	-	8	2052	c.1742C>T	c.(1741-1743)cCt>cTt	p.P581L	GRIN2A_uc002czo.4_Missense_Mutation_p.P581L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P424L|GRIN2A_uc002czr.4_Missense_Mutation_p.P581L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	581					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			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)	GTATCCAACAGGGCTGAAGTA	0.388000														127			9		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625338	140625338	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:140625338C>T	uc003lje.3	+	0	192	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	64	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGGGGAGCCCGGGTAGTTT	0.552000														69			7		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702789	40702789	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:40702789C>T	uc001cfc.4	+	7	2446	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	RLF_uc001cfd.4_Silent_p.F496F	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	805					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CATGCAACTTCCTTGGCTGTA	0.353000														49			6		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891407	18891407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr12:18891407C>T	uc001rdy.3	+	0	363	c.205C>T	c.(205-207)Cca>Tca	p.P69S	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	69					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CGATGGAAATCCAGTACTCTT	0.423000														62			5		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596905	39596905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:39596905C>T	uc002hwq.1	-	0	692	c.269G>A	c.(268-270)gGa>gAa	p.G90E		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	90	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCCACAGATTCCAATGTTGCC	0.607000														74			6		0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256684	69256684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:69256684G>A	uc021rve.1	-	2	884	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	ZFP36L1_uc001xki.2_Missense_Mutation_p.R195C|ZFP36L1_uc001xkh.2_Missense_Mutation_p.R195C	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	195					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGCGGGGACGGTCAGCGGAG	0.692000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			3		0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136277544	136277544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:136277544G>A	uc004cdm.3	-	3	985	c.785C>T	c.(784-786)gCc>gTc	p.A262V	ADAMTS13_uc004cdp.4_5'Flank|REXO4_uc011mde.2_Missense_Mutation_p.A125V|REXO4_uc011mdf.2_Missense_Mutation_p.A125V|REXO4_uc004cdn.3_Missense_Mutation_p.A13V	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	Homo sapiens REX4, RNA exonuclease 4 homolog (S. cerevisiae) (REXO4), mRNA.	262	Exonuclease.					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CACACGGGCGGCCATGCTCTC	0.547000														161			11		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537752	55537752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:55537752G>A	uc003xsd.1	+	3	1458	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	437					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCATCCAGGGAACTCAAGAC	0.438000														83			4		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212168	155212168	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:155212168T>C	uc021xge.1	-	14	2274	c.1997A>G	c.(1996-1998)aAc>aGc	p.N666S	PLCH1_uc021xgd.1_Missense_Mutation_p.N666S|PLCH1_uc021xgf.1_Missense_Mutation_p.N648S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	666	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			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)			AGGGTTGAAGTTACTGGAATC	0.468000														35			4		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr13:52661488C>T	uc001vge.3	-	14	1518	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	460							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E517K(2)|p.E460K(2)|p.W460*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393000														80			7		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962938	2962938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:2962938C>T	uc003smv.3	-	15	2304	c.1970G>A	c.(1969-1971)gGg>gAg	p.G657E		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	657					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.P657L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGCACGTGCCCCACAGAGGT	0.652000			Mis		DLBCL									62			4		0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110691	155110692	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:155110691_155110692CC>TT	uc001fhj.4	+	5	700_701	c.600_601CC>TT	c.(598-603)atccgc>atTTgc	p.R201C	SLC50A1_uc001fhk.4_Missense_Mutation_p.R146C|SLC50A1_uc001fhl.4_Missense_Mutation_p.R147C	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA.	201	Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						CCAGCTTTATCCGCTTCTGGCT	0.530000														48			6		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44413473	44413473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:44413473C>T	uc003oxl.3	+	14	2483	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	725	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGGGTTACCAGTCTCGTGC	0.453000														57			7		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128627979	128627979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:128627979C>T	uc003ifk.2	+	11	2229	c.2126C>T	c.(2125-2127)cCt>cTt	p.P709L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	709										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAGCCTAGTCCTTCCTGTAGT	0.458000														149			14		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230695492	230695492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:230695492G>A	uc002vpx.1	-	6	1443	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	TRIP12_uc021vxw.1_Missense_Mutation_p.S403F|TRIP12_uc002vpy.1_Missense_Mutation_p.S100F|TRIP12_uc002vpw.1_Missense_Mutation_p.S397F|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S403F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	397					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCCATCTCGGAATCATCTGA	0.448000														52			5		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663266	99663266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:99663266C>T	uc010nmz.3	-	0	2006	c.330G>A	c.(328-330)atG>atA	p.M110I	PCDH19_uc004efw.4_Missense_Mutation_p.M110I|PCDH19_uc004efx.4_Missense_Mutation_p.M110I	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCAGATTTCCATTGAGCTGG	0.577000														87			4		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921515	12921515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:12921515G>A	uc001aum.1	+	3	1393	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	436										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTCGGGCTGAGCTGATGTG	0.552000														88			10		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993748	49993748	+	Silent	SNP	C	T	T	rs45550435		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:49993748C>T	uc002pny.3	+	3	193	c.171C>T	c.(169-171)ttC>ttT	p.F57F	RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACCTGGCTTTCCTCCGCAAGC	0.632000														49			4		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:69433930C>T	uc021xov.1	-	0	316	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	91					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGAACATTTTCATAAAAAAAT	0.274000														31			6		0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135076273	135076273	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:135076273A>T	uc002ttw.4	+	3	681	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	179					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TATGGAGTGGATGGATCCACC	0.498000														169			9		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510853	5510853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr11:5510853G>A	uc010qzg.2	+	0	939	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R306*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCGGAGTCGACTTCTAAAA	0.428000														59			4		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081289	194081289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:194081289C>T	uc003ftt.3	-	2	627	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	LRRC15_uc003ftu.3_Missense_Mutation_p.E162K|LRRC15_uc021xiy.1_Missense_Mutation_p.E162K	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	162						integral to membrane		p.G167*(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGGATGTATTCCAGGTGGTTG	0.572000														149			15		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40773126	40773126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:40773126C>T	uc001cfh.1	-	18	1112	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	COL9A2_uc001cfi.1_Missense_Mutation_p.G153S	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	334	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			ACCGCTAGGCCCTGGTGGCCT	0.592000														16			3		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639364	38639364	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:38639364G>A	uc021wvo.1	-	12	2170	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	SCN5A_uc021wvk.1_Silent_p.I706I|SCN5A_uc021wvl.1_Silent_p.I706I|SCN5A_uc021wvm.1_Silent_p.I706I|SCN5A_uc021wvn.1_Silent_p.I706I|SCN5A_uc021wvp.1_Silent_p.I706I|SCN5A_uc021wvq.1_Silent_p.I706I|SCN5A_uc021wvr.1_Silent_p.I706I|SCN5A_uc021wvs.1_Silent_p.I706I|SCN5A_uc021wvt.1_Silent_p.I706I|SCN5A_uc021wvu.1_Silent_p.I706I|SCN5A_uc021wvv.1_Silent_p.I706I|SCN5A_uc021wvj.1_Silent_p.I572I|SCN5A_uc021wvi.1_Silent_p.I572I|SCN5A_uc021wvw.1_Silent_p.I317I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	706					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCCTGCTTGATGGACATCC	0.557000														80			7		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129281738	129281738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:129281738G>A	uc004evg.3	-	3	694	c.463C>T	c.(463-465)Cct>Tct	p.P155S	AIFM1_uc011mus.2_Missense_Mutation_p.P155S|AIFM1_uc004evh.3_Missense_Mutation_p.P151S|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155	FAD-dependent oxidoreductase (By similarity).				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTGGCCCCAGGATCCCGAGCC	0.507000														126			8		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853291	40853291	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr5:40853291G>A	uc003jmg.3	+	2	1932	c.1857G>A	c.(1855-1857)agG>agA	p.R619R		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	619					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGGATAGAAGGAAGAACATGG	0.532000														126			11		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56464962	56464962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:56464962G>A	uc003pcy.4	-	25	3838	c.3730C>T	c.(3730-3732)Ctt>Ttt	p.L1244F	DST_uc010kaa.1_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3656					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTGGGTAAGAAGATCACAT	0.408000														94			7		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568020	223568021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:223568020_223568021GG>AA	uc001hoa.2	+	0	1306_1307	c.1203_1204GG>AA	c.(1201-1206)ctggtg>ctAAtg	p.V402M		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	402										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGAGGAGGCTGGTGGAAGCCTG	0.624000														26			3		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409843	121409843	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:121409843G>A	uc010hrc.3	-	13	8494	c.8368C>T	c.(8368-8370)Ctt>Ttt	p.L2790F	GOLGB1_uc003eei.4_Missense_Mutation_p.L2785F|GOLGB1_uc003eej.4_Missense_Mutation_p.L2751F|GOLGB1_uc021xcy.1_Missense_Mutation_p.L2710F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2785					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTTCAGAAAGAAGAGCATCT	0.418000														65			5		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612140	16612140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:16612140G>A	uc002gqk.1	+	4	845	c.769G>A	c.(769-771)Gat>Aat	p.D257N	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	257																	AATGGCTAAGGATTGCGATAG	0.383000														59			5		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45798933	45798933	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr21:45798933G>A	uc010gpt.1	+	7	1168	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	TRPM2_uc002zet.1_Silent_p.S356S|TRPM2_uc002zeu.1_Silent_p.S356S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.S356S|TRPM2_uc002zex.1_Silent_p.S142S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	356						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGAGGGCTCGGGCCGCGTGG	0.637000														66			4		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34646038	34646038	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr15:34646038T>C	uc010ucc.2	+	4	1422	c.1040T>C	c.(1039-1041)cTa>cCa	p.L347P	C15orf55_uc010ucd.2_Missense_Mutation_p.L337P|C15orf55_uc001zif.3_Missense_Mutation_p.L319P	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	319						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTTGATCCTCTAGGGCCCCTG	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									75			4		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078502	56078502	+	Silent	SNP	C	T	T	rs139664564		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr20:56078502C>T	uc010giw.1	-	9	1941	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	CTCFL_uc010gix.1_Silent_p.A610A|CTCFL_uc002xym.2_Silent_p.A610A|CTCFL_uc010gjb.1_Silent_p.A610A|CTCFL_uc010gja.1_Silent_p.A560A|CTCFL_uc010gjc.1_Silent_p.A610A|CTCFL_uc010gjd.1_Silent_p.A610A|CTCFL_uc010gje.3_Silent_p.A610A|CTCFL_uc010gjg.3_Silent_p.A342A|CTCFL_uc010gjf.3_Silent_p.A405A|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	610					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CGTCTCCGTTCGCGGCTTCCT	0.502000														120			12		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10388874	10388874	+	Silent	SNP	C	T	T	rs144205813		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr8:10388874C>T	uc003wta.3	+	2	457	c.417C>T	c.(415-417)gtC>gtT	p.V139V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Silent_p.V139V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	139	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TAAAGGAGGTCGCCAGCATCA	0.517000														184			11		0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452942	48452942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:48452942C>T	uc002iqs.2	+	1	455	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.H125Y	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	125					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGTTTTGGATCATCAAAATAA	0.448000								Direct reversal of damage;Homologous recombination						85			5		0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135290682	135290682	+	Silent	SNP	C	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:135290682C>A	uc004ezo.3	+	5	899	c.570C>A	c.(568-570)acC>acA	p.T190T	FHL1_uc010nrz.2_Silent_p.T190T|FHL1_uc004ezq.2_Intron|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Silent_p.T190T|FHL1_uc011mvy.1_Silent_p.T190T|FHL1_uc004ezn.2_Silent_p.T190T|FHL1_uc022ceu.1_Silent_p.T190T|FHL1_uc011mwa.1_Silent_p.T219T|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Silent_p.T206T|FHL1_uc004ezr.2_Missense_Mutation_p.P9H	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	190	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TGTGTGTTACCTGCTCTAAGA	0.522000														249			15		4.14922e-12	4.22978e-12	1	1	0
STXBP4	252983	broad.mit.edu	37	17	53084915	53084915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:53084915C>T	uc002iuf.1	+	7	830	c.623C>T	c.(622-624)tCc>tTc	p.S208F	STXBP4_uc010dcc.1_Missense_Mutation_p.S133F|STXBP4_uc010dcd.1_Missense_Mutation_p.S208F	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	208						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GAAAAGATCTCCCTAAATCCC	0.358000														441			27		0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911105	12911105	+	Missense_Mutation	SNP	G	A	A	rs140568238		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr19:12911105G>A	uc002mvd.3	-	3	416	c.266C>T	c.(265-267)aCc>aTc	p.T89I	PRDX2_uc002mve.1_3'UTR	NM_005809	NP_005800	P32119	PRDX2_HUMAN	Homo sapiens peroxiredoxin 2 (PRDX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	89	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTTCCGGGGGGTGTTGATCCT	0.607000														82			4		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853227	35853227	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr9:35853227C>T	uc003zyo.3	+	11	2344	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TMEM8B_uc003zym.3_Silent_p.F352F	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	352					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCAGTCTCTTCGCCCTGGGGA	0.612000														131			12		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649919	232649919	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:232649919G>A	uc001hvg.3	-	0	1325	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	389					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTTCTCTTTGGAGTTGAGGT	0.537000														174			17		0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34993985	34993985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr14:34993985G>A	uc001wsd.1	-	4	608	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	167					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TGTTGTTGACGTGATCTCTGT	0.423000														47			6		0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71684502	71684502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:71684502G>A	uc004eau.3	-	7	1159	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	HDAC8_uc011mqe.2_Missense_Mutation_p.P130S|HDAC8_uc011mqg.2_Missense_Mutation_p.P182S|HDAC8_uc011mqf.2_Non-coding_Transcript|HDAC8_uc011mqh.2_Missense_Mutation_p.P220S|HDAC8_uc010nlk.2_Missense_Mutation_p.P144S	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	273	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding	p.P273T(2)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GAGCACATGGGATCCCCAGCT	0.433000														104			10		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807299	143807299	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr7:143807299G>A	uc011ktz.2	+	0	624	c.624G>A	c.(622-624)ggG>ggA	p.G208G		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCTTAGTCGGGCCTCTTTCCT	0.517000														118			12		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161023168	161023168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:161023168C>T	uc001fxl.3	-	5	890	c.544G>A	c.(544-546)Gac>Aac	p.D182N	ARHGAP30_uc001fxk.3_Missense_Mutation_p.D182N|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D28N|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.D28N	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	182	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTCTATGTCCTTAGACCTG	0.517000														49			8		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11539978	11539978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr17:11539978G>A	uc002gne.3	+	8	1731	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	555	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACCTCCTTGAAAGACCGCT	0.433000														61			4		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169814479	169814479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr2:169814479G>A	uc002ueo.1	-	18	2464	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F	ABCB11_uc010zda.1_Missense_Mutation_p.L222F|ABCB11_uc010zdb.1_Missense_Mutation_p.L256F	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	780	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTACCCCAAGAATCTGGCTG	0.423000														29			3		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677815	25677815	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr4:25677815C>G	uc003grr.3	+	12	1598	c.1517C>G	c.(1516-1518)cCg>cGg	p.P506R	SLC34A2_uc003grs.3_Missense_Mutation_p.P505R|SLC34A2_uc010iev.3_Missense_Mutation_p.P505R	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	506					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TACCCGATCCCGTTCACTCGC	0.567000			T	ROS1	NSCLC									60			4		0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986679	44986679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:44986679C>T	uc003cod.3	-	2	686	c.412G>A	c.(412-414)Gac>Aac	p.D138N	ZDHHC3_uc003cog.3_Missense_Mutation_p.D138N|ZDHHC3_uc021wws.1_5'UTR	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	138						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TGGGCTCGGTCGGGCTTGATG	0.577000														99			8		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603426	111603426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr3:111603426G>A	uc010hqa.3	+	1	913	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E195K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E168K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E168K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E168K|PHLDB2_uc003dye.4_Missense_Mutation_p.E168K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E168K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	168						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGAGGGCTGGAAGGTCGGAA	0.547000														62			5		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457483	124457483	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:124457483G>A	uc001lgn.3	-	2	806	c.774C>T	c.(772-774)taC>taT	p.Y258Y		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	258										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CATTTCCATGGTATGTTAAAC	0.383000														75			5		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5248279	5248279	+	Silent	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr10:5248279C>T	uc001ihw.2	+	4	522	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	163					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	p.I163F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CCAAGTCCATCGGGGTGTCAA	0.507000														73			7		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012134	29012134	+	Silent	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr6:29012134G>A	uc003nlw.2	-	0	819	c.819C>T	c.(817-819)ttC>ttT	p.F273F	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAGGGTGAGGAACTTGCCCT	0.443000														49			5		0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	T	T			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000														28			7		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677844	3677844	+	Splice_Site	SNP	G	A	A			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr1:3677844G>A	uc001akv.2	+	5	793	c.712_splice	c.e5-1	p.D238_splice		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	238										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTTCTGCCCAGGATCACTGCC	0.597000														39			6		0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23761252	23761252	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chrX:23761252delC	uc004dao.3	-	0	156	c.10delG	c.(10-12)gcafs	p.A4fs	ACOT9_uc004dap.3_Frame_Shift_Del_p.A4fs|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_5'UTR|ACOT9_uc004dat.1_Frame_Shift_Del_p.A4fs	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	4					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CGCAGTGCTGCCCGCCTCATT	0.697													---	4	---	---	2	---					
