Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
B3GALT1	8708	broad.mit.edu	37	2	168726333	168726333	+	Missense_Mutation	SNP	C	C	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	ENST00000305861.1	+	2	1135	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	B3GALT1_ENST00000392690.2_Missense_Mutation_p.H262Y|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	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													6	53					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857708	101857708	+	Silent	SNP	C	C	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	ENST00000604957.1	+	1	3261	c.639C>T	c.(637-639)ccC>ccT	p.P213P	ARMCX5_ENST00000372742.1_Silent_p.P213P|ARMCX5_ENST00000541409.1_Silent_p.P213P|ARMCX5_ENST00000536530.1_Silent_p.P213P|ARMCX5_ENST00000537008.1_Silent_p.P213P|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.P213P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	213							binding	p.P213P(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													12	111					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749005	152749005	+	Missense_Mutation	SNP	G	G	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	ENST00000334371.2	+	1	158	c.158G>A	c.(157-159)gGc>gAc	p.G53D		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	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													9	82					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811091	5811091	+	Missense_Mutation	SNP	C	C	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	ENST00000381095.3	-	6	2845	c.2218G>A	c.(2218-2220)Gat>Aat	p.D740N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D740N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D740N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D740N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D760N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	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													5	75					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079465	23079465	+	Missense_Mutation	SNP	G	G	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	ENST00000219689.7	-	16	3960	c.3961C>T	c.(3961-3963)Ccc>Tcc	p.P1321S	USP31_ENST00000567975.1_Missense_Mutation_p.P614S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	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													8	112					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949935	7949935	+	Missense_Mutation	SNP	A	A	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	ENST00000309838.2	-	1	274	c.275T>G	c.(274-276)aTt>aGt	p.I92S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	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													15	123					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354403	42354403	+	Missense_Mutation	SNP	C	C	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	ENST00000269945.3	+	7	830	c.779C>T	c.(778-780)cCc>cTc	p.P260L	DMRTC2_ENST00000596827.1_Missense_Mutation_p.P260L	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	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													24	244					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677815	25677815	+	Missense_Mutation	SNP	C	C	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	ENST00000382051.3	+	13	1567	c.1517C>G	c.(1516-1518)cCg>cGg	p.P506R	SLC34A2_ENST00000503434.1_Missense_Mutation_p.P505R|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P505R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	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								4	60					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649919	232649919	+	Silent	SNP	G	G	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	ENST00000366630.1	-	2	1525	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	SIPA1L2_ENST00000262861.4_Silent_p.S389S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	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													17	174					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103303	71103303	+	Missense_Mutation	SNP	G	G	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	ENST00000393567.2	-	14	1991	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	HYDIN_ENST00000448691.1_Missense_Mutation_p.S614L|HYDIN_ENST00000448089.2_Missense_Mutation_p.S614L|HYDIN_ENST00000393550.2_Missense_Mutation_p.S629L|HYDIN_ENST00000321489.5_Missense_Mutation_p.S614L|HYDIN_ENST00000288168.10_Missense_Mutation_p.S631L|HYDIN_ENST00000541601.1_Missense_Mutation_p.S631L|HYDIN_ENST00000538248.1_Missense_Mutation_p.S641L|HYDIN_ENST00000543639.1_5'UTR	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	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													6	80					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098851	48098851	+	Missense_Mutation	SNP	C	C	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	ENST00000371741.4	-	1	333	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	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													3	12					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960908	73960908	+	Missense_Mutation	SNP	G	G	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	ENST00000373468.1	-	3	4135	c.3484C>T	c.(3484-3486)Cca>Tca	p.P1162S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1162S			Q5QGS0	K2022_HUMAN	KIAA2022	1162					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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													5	95					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135445712	135445712	+	Missense_Mutation	SNP	C	C	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	ENST00000394143.1	+	13	7645	c.7354C>T	c.(7354-7356)Cct>Tct	p.P2452S	GPR112_ENST00000370652.1_Missense_Mutation_p.P2452S|GPR112_ENST00000287534.4_Missense_Mutation_p.P2250S|GPR112_ENST00000412101.1_Missense_Mutation_p.P2247S|GPR112_ENST00000394141.1_Missense_Mutation_p.P2247S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	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													6	57					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Missense_Mutation	SNP	C	C	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	ENST00000396573.2	-	14	3682	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E968K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1125K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1125K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(2)		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													8	137					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73668615	73668615	+	Silent	SNP	G	G	A	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.chr7:73668615G>A	ENST00000055077.3	-	1	159	c.99C>T	c.(97-99)caC>caT	p.H33H	RFC2_ENST00000352131.3_Silent_p.H33H	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	33					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|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						GCAGTTCGTAGTGGCCGGCGC	0.697000													3	16					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50547094	50547094	+	Silent	SNP	C	C	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	ENST00000262794.5	+	5	647	c.564C>T	c.(562-564)atC>atT	p.I188I	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.I188I|MOV10L1_ENST00000540615.1_Silent_p.I168I|MOV10L1_ENST00000545383.1_Silent_p.I188I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	188					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			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													6	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495059	179495059	+	Silent	SNP	G	G	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	ENST00000589042.1	-	239	44414	c.44190C>T	c.(44188-44190)tcC>tcT	p.S14730S	TTN_ENST00000342992.6_Silent_p.S12162S|TTN_ENST00000342175.6_Silent_p.S5857S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.S5790S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.S5665S|TTN_ENST00000591111.1_Silent_p.S13089S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13089	Fibronectin type-III 6.						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													4	31					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176852083	176852083	+	Missense_Mutation	SNP	G	G	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	ENST00000367654.2	-	20	3311	c.3298C>T	c.(3298-3300)Cct>Tct	p.P1100S	ASTN1_ENST00000361833.2_Missense_Mutation_p.P1092S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1092S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1092S			O14525	ASTN1_HUMAN	astrotactin 1	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													11	65					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	C	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	ENST00000332517.3	+	6	1477	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			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													11	95					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34189858	34189858	+	Silent	SNP	G	G	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	ENST00000373381.4	-	19	3116	c.2940C>T	c.(2938-2940)ttC>ttT	p.F980F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	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													3	29					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96728497	96728497	+	Splice_Site	SNP	C	C	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	ENST00000261211.3	-	2	721	c.118_splice	c.e2+1	p.E40_splice	CDK17_ENST00000542666.1_Intron|CDK17_ENST00000543119.2_Splice_Site_p.E40_splice	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	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													3	25					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560518	178560518	+	Silent	SNP	G	G	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	ENST00000432997.1	+	5	853	c.501G>A	c.(499-501)agG>agA	p.R167R	RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.R167R|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R167R|KCNMB2_ENST00000420517.2_Silent_p.R167R|RP11-385J1.2_ENST00000437488.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	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			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													4	49					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993748	49993748	+	Silent	SNP	C	C	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	ENST00000391857.4	+	4	247	c.171C>T	c.(169-171)ttC>ttT	p.F57F	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	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													4	49					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985083	67985083	+	Silent	SNP	G	G	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	ENST00000422611.2	-	8	1302	c.1263C>A	c.(1261-1263)tcC>tcA	p.S421S	SLC12A4_ENST00000316341.3_Silent_p.S419S|SLC12A4_ENST00000572037.1_Silent_p.S371S|SLC12A4_ENST00000576616.1_Silent_p.S419S|SLC12A4_ENST00000537830.2_Silent_p.S413S|SLC12A4_ENST00000338335.3_Silent_p.S419S|SLC12A4_ENST00000541864.2_Silent_p.S388S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	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													9	110					4.68919e-08	4.73221e-08	1	1	0
ZDHHC3	51304	broad.mit.edu	37	3	44986679	44986679	+	Missense_Mutation	SNP	C	C	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	ENST00000296127.3	-	3	685	c.412G>A	c.(412-414)Gac>Aac	p.D138N	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.D172N|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.D138N	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	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													8	99					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575823	49575823	+	Silent	SNP	C	C	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	ENST00000244051.1	+	1	461	c.444C>T	c.(442-444)ctC>ctT	p.L148L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	148					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme 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													7	84					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56464962	56464962	+	Missense_Mutation	SNP	G	G	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	ENST00000370754.5	-	45	11505	c.11506C>T	c.(11506-11508)Ctt>Ttt	p.L3836F	DST_ENST00000421834.2_Missense_Mutation_p.L1570F|DST_ENST00000244364.6_Missense_Mutation_p.L1244F|DST_ENST00000370788.2_Missense_Mutation_p.L1570F|DST_ENST00000361203.3_Missense_Mutation_p.L3656F|DST_ENST00000312431.6_Missense_Mutation_p.L3656F|DST_ENST00000370769.4_Missense_Mutation_p.L3658F|DST_ENST00000446842.2_Missense_Mutation_p.L3332F			Q03001	DYST_HUMAN	dystonin	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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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													7	94					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068887	73068887	+	RNA	SNP	G	G	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:73068887G>A	ENST00000429829.1	-	0	3701					NR_001564.2																						GTAACTAACAGAACTATGGAT	0.403000													4	34					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487816	228487816	+	Missense_Mutation	SNP	G	G	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.chr1:228487816G>A	ENST00000570156.2	+	51	13782	c.13708G>A	c.(13708-13710)Gag>Aag	p.E4570K	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.E1260K|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3613	Fibronectin type-III 3.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			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)				ATGTGAGCAGGAGAGGACCTC	0.547000													6	55					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169814479	169814479	+	Missense_Mutation	SNP	G	G	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	ENST00000263817.6	-	19	2462	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	780	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi 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													3	29					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359121	178359121	+	Silent	SNP	C	C	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	ENST00000361362.2	+	5	1337	c.807C>T	c.(805-807)ccC>ccT	p.P269P	ZFP2_ENST00000523286.1_Silent_p.P269P|ZFP2_ENST00000520301.1_Silent_p.P269P|ZFP2_ENST00000503510.2_Silent_p.P269P	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	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													6	72					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212511	1212511	+	Missense_Mutation	SNP	C	C	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	ENST00000304460.10	+	4	631	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	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													6	105					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711369	42711369	+	Missense_Mutation	SNP	G	G	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	ENST00000230882.4	+	7	869	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GHR_ENST00000357703.3_Missense_Mutation_p.E205K|GHR_ENST00000537449.1_Missense_Mutation_p.E40K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	227	Fibronectin type-III.				2-oxoglutarate metabolic process|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|JAK-STAT cascade|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													6	120					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62393437	62393437	+	Silent	SNP	T	T	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	ENST00000371158.2	+	27	3720	c.3606T>G	c.(3604-3606)ccT>ccG	p.P1202P	INADL_ENST00000316485.6_Silent_p.P1202P	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	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													4	62					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835779	110835779	+	Silent	SNP	C	C	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.chr5:110835779C>T	ENST00000296632.3	-	6	557	c.423G>A	c.(421-423)aaG>aaA	p.K141K	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	141	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ATTCTGGTCTCTTTTCATCCC	0.338000													3	45					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220789319	220789319	+	Silent	SNP	T	T	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	ENST00000402574.1	+	7	1131	c.129T>C	c.(127-129)atT>atC	p.I43I	MARK1_ENST00000366918.4_Silent_p.I156I|MARK1_ENST00000366917.4_Silent_p.I178I	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	178					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													8	44					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838546	155838546	+	Missense_Mutation	SNP	C	C	T	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.chr3:155838546C>T	ENST00000490337.1	+	1	210	c.146C>T	c.(145-147)cCc>cTc	p.P49L	KCNAB1_ENST00000389636.5_Missense_Mutation_p.P49L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	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)			AGCCTTAGTCCCTCAGGGGAA	0.537000													4	56					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45798933	45798933	+	Silent	SNP	G	G	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	ENST00000397928.1	+	8	1513	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	TRPM2_ENST00000300482.5_Silent_p.S356S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.S356S|TRPM2_ENST00000397932.2_Silent_p.S356S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	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													4	66					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480359	102480359	+	Missense_Mutation	SNP	C	C	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	ENST00000324219.4	+	17	2017	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S543C|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000425019.1_Intron			O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	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													25	308					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44954020	44954020	+	Nonsense_Mutation	SNP	G	G	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	ENST00000290015.2	+	4	1063	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	337					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|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CAGGTGCAGTGGTGCTGCTAC	0.652000													4	25					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592470	50592470	+	Nonsense_Mutation	SNP	C	C	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.chr18:50592470C>T	ENST00000442544.2	+	7	1811	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	DCC_ENST00000581580.1_Nonsense_Mutation_p.Q54*|DCC_ENST00000412726.1_Nonsense_Mutation_p.Q247*|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	399	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGCTTTTATCAATGTGTGGC	0.443000													4	62					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101767251	101767251	+	Silent	SNP	G	G	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	ENST00000375001.3	+	9	1695	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	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													7	85					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20060745	20060745	+	Silent	SNP	C	C	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	ENST00000379651.3	-	7	777	c.759G>A	c.(757-759)gtG>gtA	p.V253V	MAP7D2_ENST00000543767.1_Silent_p.V138V|MAP7D2_ENST00000452324.3_Silent_p.V201V|MAP7D2_ENST00000443379.3_Silent_p.V208V|MAP7D2_ENST00000379643.5_Silent_p.V294V	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	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													8	158					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204836	5204836	+	Missense_Mutation	SNP	C	C	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	ENST00000334314.3	-	2	317	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TAGAATATTTCCTCTCTCTTG	0.413000													8	125					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525494	176525494	+	Silent	SNP	G	G	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	ENST00000367662.3	+	2	1200	c.36G>A	c.(34-36)gcG>gcA	p.A12A	PAPPA2_ENST00000367661.3_Silent_p.A12A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	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													9	130					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10388874	10388874	+	Silent	SNP	C	C	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	ENST00000328655.3	+	3	457	c.417C>T	c.(415-417)gtC>gtT	p.V139V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.V139V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	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													11	184					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046490	69046490	+	Missense_Mutation	SNP	G	G	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	ENST00000288368.4	+	32	4240	c.3963G>C	c.(3961-3963)caG>caC	p.Q1321H		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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													5	57					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	G	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	ENST00000367662.3	+	16	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		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													8	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569660	179569660	+	Missense_Mutation	SNP	C	C	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	ENST00000589042.1	-	104	29862	c.29638G>A	c.(29638-29640)Gaa>Aaa	p.E9880K	TTN_ENST00000342992.6_Missense_Mutation_p.E8636K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9563K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9563	Pro-rich.						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													8	112					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285685	100285685	+	Silent	SNP	G	G	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	ENST00000275732.5	-	2	1293	c.84C>T	c.(82-84)tcC>tcT	p.S28S	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	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													16	68					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40651074	40651074	+	Missense_Mutation	SNP	C	C	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.chr12:40651074C>T	ENST00000298910.7	+	12	1371	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	LRRK2_ENST00000343742.2_Missense_Mutation_p.S438L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	438					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACTGTTATCAAAAGGAATA	0.274000													3	42					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098868	133098868	+	Missense_Mutation	SNP	A	A	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	ENST00000515826.1	+	3	436	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	TMEM108_ENST00000321871.6_Missense_Mutation_p.T105A|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.T105A			Q6UXF1	TM108_HUMAN	transmembrane protein 108	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													6	63					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655948	40655948	+	Silent	SNP	G	G	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.chr2:40655948G>A	ENST00000406785.1	-	2	1662	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	SLC8A1_ENST00000403092.1_Silent_p.F491F|SLC8A1_ENST00000406391.2_Silent_p.F491F|SLC8A1_ENST00000405269.1_Silent_p.F491F|SLC8A1_ENST00000402441.1_Silent_p.F491F|SLC8A1_ENST00000408028.2_Silent_p.F491F|SLC8A1_ENST00000405901.3_Silent_p.F491F|SLC8A1_ENST00000542024.1_Silent_p.F491F|SLC8A1_ENST00000542756.1_Silent_p.F491F|SLC8A1_ENST00000332839.4_Silent_p.F491F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	491	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GATGCACAAGGAAATTTTCAT	0.418000													4	48					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071652	53071652	+	Missense_Mutation	SNP	G	G	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.chr8:53071652G>A	ENST00000276480.7	-	15	2295	c.1612C>T	c.(1612-1614)Cca>Tca	p.P538S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	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)				AATTTCACTGGATTTGGAAAA	0.413000													4	63					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322528	134322528	+	Missense_Mutation	SNP	C	C	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.chr3:134322528C>T	ENST00000508956.1	-	10	1873	c.1816G>A	c.(1816-1818)Gga>Aga	p.G606R	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.G627R			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGCTTCCCTCCCAGTAG	0.517000													4	90					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640337	51640337	+	Missense_Mutation	SNP	G	G	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	ENST00000375695.2	+	6	1777	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	MAGED1_ENST00000326587.7_Missense_Mutation_p.D486N|MAGED1_ENST00000375722.1_Missense_Mutation_p.D486N|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.D486N	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	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)			5	70					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755051	140755051	+	Silent	SNP	G	G	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	ENST00000517434.1	+	1	1401	c.1401G>A	c.(1399-1401)agG>agA	p.R467R	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCCAGGGGTGCCTCCA	0.557000													12	190					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5448398	5448398	+	Splice_Site	SNP	A	A	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	ENST00000282908.5	+	7	984		c.e7-1		STK32B_ENST00000512636.1_Splice_Site|STK32B_ENST00000510398.1_Splice_Site|STK32B_ENST00000508728.1_Splice_Site	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B								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													5	35					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6851090	6851090	+	Missense_Mutation	SNP	G	G	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	ENST00000419673.2	+	3	341	c.124G>A	c.(124-126)Gag>Aag	p.E42K	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.E42K|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.E149K|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E201K|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.E24K|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.E42K|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E201K|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.E42K	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	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													3	43					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	68962368	68962368	+	Silent	SNP	C	C	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.chr2:68962368C>T	ENST00000295381.3	+	1	456	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000467265.1_Silent_p.L13L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Silent_p.L13L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	13					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGATTTCAACCTGAAAGTGGA	0.458000													5	120					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848200	54848200	+	Silent	SNP	G	G	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	ENST00000291759.4	-	6	1223	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	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													9	169					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28986090	28986090	+	Missense_Mutation	SNP	G	G	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	ENST00000359747.4	+	12	1716	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E563K	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	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													8	55					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40773126	40773126	+	Missense_Mutation	SNP	C	C	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	ENST00000372748.3	-	19	1096	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	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													3	16					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102965042	102965042	+	Silent	SNP	C	C	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	ENST00000504592.1	+	15	2320	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	BANK1_ENST00000428908.1_Silent_p.F516F|BANK1_ENST00000322953.4_Silent_p.F649F|BANK1_ENST00000444316.2_Silent_p.F619F|BANK1_ENST00000508653.1_Silent_p.F516F			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	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													10	101					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	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	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		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					6	55					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639364	38639364	+	Silent	SNP	G	G	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	ENST00000413689.1	-	14	2311	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	SCN5A_ENST00000443581.1_Silent_p.I706I|SCN5A_ENST00000425664.1_Silent_p.I706I|SCN5A_ENST00000414099.2_Silent_p.I706I|SCN5A_ENST00000423572.2_Silent_p.I706I|SCN5A_ENST00000455624.2_Silent_p.I706I|SCN5A_ENST00000451551.2_Silent_p.I706I|SCN5A_ENST00000333535.4_Silent_p.I706I|SCN5A_ENST00000450102.2_Silent_p.I706I|SCN5A_ENST00000449557.2_Silent_p.I706I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	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													7	80					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43639630	43639630	+	Silent	SNP	G	G	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	ENST00000378069.4	-	10	1185	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	MAOB_ENST00000536181.1_Silent_p.A330A|MAOB_ENST00000538942.1_Silent_p.A330A	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	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													3	26					1.024e-07	1.03024e-07	1	1	0
MECOM	2122	broad.mit.edu	37	3	168802737	168802737	+	Missense_Mutation	SNP	G	G	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.chr3:168802737G>A	ENST00000464456.1	-	15	4289	c.3089C>T	c.(3088-3090)gCg>gTg	p.A1030V	MECOM_ENST00000494292.1_Missense_Mutation_p.A1218V|MECOM_ENST00000468789.1_Missense_Mutation_p.A1039V|MECOM_ENST00000433243.2_Missense_Mutation_p.A1040V|MECOM_ENST00000392736.3_Missense_Mutation_p.A1039V|MECOM_ENST00000472280.1_Missense_Mutation_p.A1040V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000264674.3_Missense_Mutation_p.A1104V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGATTCCGCCGCAGCCCTGGC	0.517000													4	113					0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266642	113266642	+	Missense_Mutation	SNP	C	C	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	ENST00000369630.3	+	4	558	c.341C>T	c.(340-342)tCg>tTg	p.S114L	FAM19A3_ENST00000361886.3_Silent_p.I91I			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	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													6	37					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925732	55925732	+	Missense_Mutation	SNP	C	C	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	ENST00000244728.5	-	26	2706	c.2309G>A	c.(2308-2310)gGg>gAg	p.G770E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G770E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G767E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G170E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	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													4	29					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820550	43820550	+	Missense_Mutation	SNP	G	G	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.chr15:43820550G>A	ENST00000382031.1	+	5	7624	c.7593G>A	c.(7591-7593)atG>atA	p.M2531I	MAP1A_ENST00000399453.1_Missense_Mutation_p.M2293I|MAP1A_ENST00000300231.5_Missense_Mutation_p.M2293I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	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)	ACCCAGGAATGGAACCAGCTG	0.617000													3	34					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176434	104176434	+	Missense_Mutation	SNP	C	C	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	ENST00000020673.5	-	2	888	c.362G>A	c.(361-363)gGg>gAg	p.G121E	PSD_ENST00000406432.1_Missense_Mutation_p.G121E	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	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													10	50					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962881	94962881	+	Missense_Mutation	SNP	C	C	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	ENST00000341228.2	-	4	1529	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G245D	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	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													9	147					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668999	53668999	+	Silent	SNP	G	G	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	ENST00000600412.1	-	2	664	c.549C>T	c.(547-549)aaC>aaT	p.N183N	ZNF665_ENST00000396424.3_Silent_p.N248N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	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													9	80					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133945853	133945853	+	Missense_Mutation	SNP	G	G	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	ENST00000220616.4	+	24	4904	c.4864G>A	c.(4864-4866)Gag>Aag	p.E1622K	TG_ENST00000542445.1_Missense_Mutation_p.E56K|TG_ENST00000377869.1_Missense_Mutation_p.E1565K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	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													8	135					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	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.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	54					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25272552	25272552	+	Missense_Mutation	SNP	G	G	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.chr22:25272552G>A	ENST00000400358.4	+	13	1357	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D489N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	434						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGTGCCCCAGGATCTGATGGA	0.567000													10	147					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820551	43820551	+	Missense_Mutation	SNP	G	G	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.chr15:43820551G>A	ENST00000382031.1	+	5	7625	c.7594G>A	c.(7594-7596)Gaa>Aaa	p.E2532K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E2294K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E2294K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2294						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)	CCCAGGAATGGAACCAGCTGC	0.612000													3	32					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147715	129147715	+	Missense_Mutation	SNP	C	C	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	ENST00000540052.1	+	3	1011	c.967C>T	c.(967-969)Cct>Tct	p.P323S	BCORL1_ENST00000218147.7_Missense_Mutation_p.P323S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P323S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P323S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	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													3	15					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128627979	128627979	+	Missense_Mutation	SNP	C	C	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	ENST00000335251.5	+	12	2229	c.2126C>T	c.(2125-2127)cCt>cTt	p.P709L		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	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													14	149					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15517307	15517307	+	Missense_Mutation	SNP	C	C	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	ENST00000455584.2	-	9	1684	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	CDRT1_ENST00000395906.3_Missense_Mutation_p.M237I																							ACAGCCTATTCATTTCGGATA	0.488000													4	103					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568021	223568021	+	Missense_Mutation	SNP	G	G	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.chr1:223568021G>A	ENST00000366875.3	+	1	1307	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	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)		GAGGAGGCTGGTGGAAGCCTG	0.622000													3	26					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71684502	71684502	+	Missense_Mutation	SNP	G	G	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	ENST00000373573.3	-	8	1158	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	HDAC8_ENST00000429103.2_Missense_Mutation_p.P78S|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Missense_Mutation_p.P182S	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	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	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.P273T(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GAGCACATGGGATCCCCAGCT	0.433000													10	104					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110692	155110692	+	Missense_Mutation	SNP	C	C	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.chr1:155110692C>T	ENST00000368404.4	+	6	663	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Missense_Mutation_p.R136C|SLC50A1_ENST00000368401.5_Missense_Mutation_p.R146C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.R147C	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	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						CAGCTTTATCCGCTTCTGGCT	0.532000													5	48					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814777	31814777	+	Silent	SNP	G	G	A	rs139539413		TCGA-FW-A5DY-06A-11D-A30X-08	TCGA-FW-A5DY-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a01f9a53-0d34-43c8-842c-be25f7c80296	9cfe72cc-d66e-4990-a116-86bd21e23136	g.chr20:31814777G>A	ENST00000375454.3	+	6	873	c.663G>A	c.(661-663)gtG>gtA	p.V221V	BPIFA3_ENST00000375452.3_Silent_p.V185V|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	221						extracellular region	lipid binding	p.V221V(1)									AGCTGGATGTGAAACTGTTGA	0.542000													5	82					0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560740	30560740	+	Silent	SNP	G	G	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.chr8:30560740G>A	ENST00000221130.5	-	5	600	c.510C>T	c.(508-510)atC>atT	p.I170I	GSR_ENST00000546342.1_Silent_p.I170I|GSR_ENST00000537535.1_Silent_p.I170I|GSR_ENST00000541648.1_Silent_p.I170I|GSR_ENST00000414019.1_Silent_p.I127I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	170					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CATGGCCACGGATGATTTCTA	0.458000													6	74					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138712839	138712839	+	Missense_Mutation	SNP	A	A	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.chr9:138712839A>C	ENST00000389532.4	-	11	3732	c.3668T>G	c.(3667-3669)gTg>gGg	p.V1223G	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V945G|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V1234G	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1223						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGGCTCCTCCACGGGGACGCT	0.597000													3	51					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510886	48510886	+	Missense_Mutation	SNP	C	C	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.chr11:48510886C>T	ENST00000446524.1	+	1	618	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GACATGTATCCCTTATTGAAA	0.443000													4	121					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899636	233899636	+	Nonsense_Mutation	SNP	C	C	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	ENST00000233840.3	+	2	1012	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	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													7	139					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44130997	44130997	+	Silent	SNP	G	G	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	ENST00000222374.2	-	4	486	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	146	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ACCGCGGAACGAGGCAGCTGA	0.682000													7	77					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567238	136567238	+	Silent	SNP	G	G	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	ENST00000264162.2	-	8	2689	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	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													6	118					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055334	64055334	+	Silent	SNP	C	C	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	ENST00000539851.1	+	4	1016	c.549C>T	c.(547-549)ttC>ttT	p.F183F	GPR137_ENST00000411458.1_Silent_p.F241F|GPR137_ENST00000438980.2_Silent_p.F183F|GPR137_ENST00000313074.3_Silent_p.F183F|GPR137_ENST00000377702.4_Silent_p.F183F	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	183						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACTCCCTGTTCGTCATCTGCG	0.662000													4	56					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73668616	73668616	+	Missense_Mutation	SNP	T	T	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.chr7:73668616T>A	ENST00000055077.3	-	1	158	c.98A>T	c.(97-99)cAc>cTc	p.H33L	RFC2_ENST00000352131.3_Missense_Mutation_p.H33L	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	33					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|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						CAGTTCGTAGTGGCCGGCGCT	0.692000													3	15					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228473847	228473847	+	Missense_Mutation	SNP	C	C	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	ENST00000570156.2	+	39	10434	c.10360C>T	c.(10360-10362)Cgt>Tgt	p.R3454C	OBSCN_ENST00000359599.6_Missense_Mutation_p.R1872C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R144C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R144C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3025C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3025C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2489	Ig-like 35.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			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													3	17					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894466	166894466	+	Silent	SNP	C	C	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	ENST00000423058.2	-	15	2783	c.2766G>A	c.(2764-2766)aaG>aaA	p.K922K	SCN1A_ENST00000303395.4_Silent_p.K922K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K894K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.K911K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	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													14	106					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256684	69256684	+	Missense_Mutation	SNP	G	G	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	ENST00000439696.2	-	2	884	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R195C	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	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)	3	58					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568020	223568020	+	Silent	SNP	G	G	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.chr1:223568020G>A	ENST00000366875.3	+	1	1306	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	401										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGAGGAGGCTGGTGGAAGCCT	0.627000													3	26					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432922	55432922	+	Missense_Mutation	SNP	G	G	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	ENST00000314259.3	+	1	309	c.280G>A	c.(280-282)Ggc>Agc	p.G94S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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													5	65					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179742709	179742709	+	Silent	SNP	G	G	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	ENST00000420890.2	-	12	1998	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CCDC141_ENST00000295723.5_Silent_p.F52F|CCDC141_ENST00000409284.1_Silent_p.F627F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	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													4	87					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748122	124748122	+	Missense_Mutation	SNP	G	G	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	ENST00000311127.4	-	2	594	c.527C>T	c.(526-528)tCa>tTa	p.S176L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	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													4	17					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624555	624555	+	Missense_Mutation	SNP	G	G	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	ENST00000321878.5	+	2	640	c.481G>T	c.(481-483)Ggc>Tgc	p.G161C	PIGQ_ENST00000470411.2_Missense_Mutation_p.G161C|PIGQ_ENST00000409527.2_Missense_Mutation_p.G161C|PIGQ_ENST00000026218.5_Missense_Mutation_p.G161C	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	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													5	4					0.014758	0.014758	1	1	0
XDH	7498	broad.mit.edu	37	2	31558829	31558829	+	Missense_Mutation	SNP	C	C	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	ENST00000379416.3	-	36	4045	c.3997G>A	c.(3997-3999)Gtc>Atc	p.V1333I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	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													6	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416811	179416811	+	Nonsense_Mutation	SNP	C	C	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	ENST00000589042.1	-	335	91040	c.90816G>A	c.(90814-90816)tgG>tgA	p.W30272*	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W27704*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21399*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21332*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21207*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W28631*|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28631	Fibronectin type-III 121.						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													9	91					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702789	40702789	+	Silent	SNP	C	C	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	ENST00000372771.4	+	8	2442	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	805					chromosome organization|DNA integration|DNA mediated transformation|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													6	49					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5248279	5248279	+	Silent	SNP	C	C	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	ENST00000380448.1	+	7	742	c.489C>T	c.(487-489)atC>atT	p.I163I	AKR1C4_ENST00000263126.1_Silent_p.I163I			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	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			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													7	73					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200549	86200549	+	Silent	SNP	C	C	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.chr1:86200549C>T	ENST00000370571.2	-	59	5247	c.4881G>A	c.(4879-4881)agG>agA	p.R1627R	COL24A1_ENST00000436319.1_Silent_p.R1606R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	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)		TGCTTGTCCACCTTGGGGTGT	0.443000													9	96					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46276031	46276031	+	Missense_Mutation	SNP	G	G	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	ENST00000372004.3	+	18	3683	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	NCOA3_ENST00000341724.6_Missense_Mutation_p.R1086Q|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1151Q|NCOA3_ENST00000371998.3_Missense_Mutation_p.R1156Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	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													6	52					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71871297	71871297	+	Missense_Mutation	SNP	C	C	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.chr10:71871297C>T	ENST00000373255.4	+	9	1241	c.977C>T	c.(976-978)gCg>gTg	p.A326V	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	326	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AAACAGACTGCGGCCCAGGTG	0.527000													4	103					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21900198	21900198	+	Silent	SNP	G	G	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	ENST00000374840.3	+	9	1153	c.903G>A	c.(901-903)agG>agA	p.R301R	ALPL_ENST00000539907.1_Silent_p.R224R|ALPL_ENST00000374830.1_Intron|ALPL_ENST00000540617.1_Silent_p.R246R|ALPL_ENST00000425315.2_Silent_p.R301R|ALPL_ENST00000374832.1_Silent_p.R301R	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	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													3	22					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003856	155003856	+	Missense_Mutation	SNP	C	C	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	ENST00000302805.2	+	2	754	c.323C>T	c.(322-324)tCa>tTa	p.S108L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	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													6	98					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53990500	53990500	+	Missense_Mutation	SNP	G	G	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	ENST00000312233.2	-	5	1584	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	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													5	111					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24696257	24696257	+	Missense_Mutation	SNP	G	G	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	ENST00000374409.1	-	7	898	c.644C>T	c.(643-645)aCc>aTc	p.T215I	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.T168I|STPG1_ENST00000337248.4_Missense_Mutation_p.T215I|STPG1_ENST00000003583.8_Missense_Mutation_p.T168I	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TCCACGGTTGGTTTTTGATTT	0.403000													5	77					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452942	48452942	+	Missense_Mutation	SNP	C	C	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	ENST00000393271.2	+	2	455	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	EME1_ENST00000511648.2_Missense_Mutation_p.H125Y|EME1_ENST00000338165.4_Missense_Mutation_p.H125Y	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	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					5	85					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110901981	110901981	+	Splice_Site	SNP	G	G	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	ENST00000265171.5	+	15	2666		c.e15-1		EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						angiogenesis|DNA replication|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 catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase 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													7	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072845	9072845	+	Missense_Mutation	SNP	C	C	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	ENST00000397910.4	-	3	14804	c.14601G>A	c.(14599-14601)atG>atA	p.M4867I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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													16	130					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769143	148769143	+	Missense_Mutation	SNP	G	G	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	ENST00000316286.9	-	3	735	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	ZNF786_ENST00000491431.1_Missense_Mutation_p.R241W|ZNF786_ENST00000451334.3_Missense_Mutation_p.R204W			Q8N393	ZN786_HUMAN	zinc finger protein 786	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													3	23					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259363	43259363	+	Silent	SNP	C	C	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	ENST00000404209.4	-	4	861	c.765G>A	c.(763-765)aaG>aaA	p.K255K	PSG8_ENST00000406636.3_Silent_p.K133K|PSG8_ENST00000401467.2_Silent_p.K162K|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Silent_p.K255K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	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													12	228					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579905	179579905	+	Missense_Mutation	SNP	G	G	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	ENST00000589042.1	-	90	26232	c.26008C>T	c.(26008-26010)Ccc>Tcc	p.P8670S	TTN_ENST00000342992.6_Missense_Mutation_p.P7426S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8353S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8353	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)			TGAAATGGGGGAGTGCCCTGA	0.428000													14	164					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746680	95746680	+	Missense_Mutation	SNP	C	C	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	ENST00000311106.3	-	8	1130	c.893G>A	c.(892-894)gGg>gAg	p.G298E	PCSK1_ENST00000508626.1_Missense_Mutation_p.G251E|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	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													12	90					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583956	35583956	+	Silent	SNP	C	C	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	ENST00000287272.2	+	9	1403	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	UNC5D_ENST00000420357.1_Silent_p.I463I|UNC5D_ENST00000453357.2_Silent_p.I525I|UNC5D_ENST00000404895.2_Silent_p.I530I|UNC5D_ENST00000416672.1_Silent_p.I535I|UNC5D_ENST00000449677.1_Silent_p.I106I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	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													7	98					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070090	9070090	+	Missense_Mutation	SNP	C	C	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	ENST00000397910.4	-	3	17559	c.17356G>A	c.(17356-17358)Gac>Aac	p.D5786N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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													6	81					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119887018	119887018	+	Missense_Mutation	SNP	G	G	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	ENST00000464295.1	-	10	1751	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	GPR156_ENST00000461057.1_Missense_Mutation_p.P432S|GPR156_ENST00000315843.3_Missense_Mutation_p.P436S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	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													4	26					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960344	73960344	+	Missense_Mutation	SNP	C	C	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:73960344C>T	ENST00000373468.1	-	3	4699	c.4048G>A	c.(4048-4050)Gat>Aat	p.D1350N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D1350N			Q5QGS0	K2022_HUMAN	KIAA2022	1350					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						ATGTTGGGATCCCCATGGTGC	0.453000													4	69					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489239	128489239	+	Silent	SNP	C	C	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	ENST00000325888.8	+	29	5193	c.4932C>T	c.(4930-4932)tcC>tcT	p.S1644S	FLNC_ENST00000346177.6_Silent_p.S1644S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	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													4	47					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012134	29012134	+	Silent	SNP	G	G	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	ENST00000377175.1	-	1	883	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	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													5	49					0	0	1	0	0
HAMP	57817	broad.mit.edu	37	19	35775748	35775748	+	Nonsense_Mutation	SNP	G	G	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	ENST00000598398.1	+	3	443	c.147G>A	c.(145-147)tgG>tgA	p.W49*	HAMP_ENST00000222304.3_Nonsense_Mutation_p.W49*	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	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													5	68					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9927997	9927997	+	Missense_Mutation	SNP	G	G	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	ENST00000396573.2	-	9	2051	c.1742C>T	c.(1741-1743)cCt>cTt	p.P581L	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P424L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P581L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P581L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P581L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P581L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	581					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			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													9	127					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2581424	2581424	+	Silent	SNP	G	G	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	ENST00000340611.4	-	8	1318	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	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													3	28					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697401	153697401	+	Silent	SNP	C	C	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	ENST00000369682.3	+	26	4612	c.4437C>T	c.(4435-4437)acC>acT	p.T1479T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	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													7	61					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110691	155110691	+	Silent	SNP	C	C	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.chr1:155110691C>T	ENST00000368404.4	+	6	662	c.600C>T	c.(598-600)atC>atT	p.I200I	SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Silent_p.I135I|SLC50A1_ENST00000368401.5_Silent_p.I145I|SLC50A1_ENST00000303343.8_Silent_p.I146I	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	200	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						CCAGCTTTATCCGCTTCTGGC	0.532000													6	48					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	G	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	ENST00000440970.1	-	2	2163	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P675S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	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 transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	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													8	103					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877088	16877088	+	Silent	SNP	C	C	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	ENST00000377833.4	-	64	10352	c.10287G>A	c.(10285-10287)caG>caA	p.Q3429Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	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													5	57					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170629	159170629	+	Missense_Mutation	SNP	G	G	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	ENST00000368125.4	+	9	1271	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CADM3_ENST00000368124.4_Missense_Mutation_p.D406N|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	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													6	83					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942294	24942294	+	Missense_Mutation	SNP	G	G	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	ENST00000289968.6	-	19	2395	c.2326C>T	c.(2326-2328)Cct>Tct	p.P776S	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P698S	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	776	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			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													4	113					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83402023	83402023	+	Silent	SNP	C	C	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	ENST00000262752.2	-	5	391	c.384G>A	c.(382-384)gtG>gtA	p.V128V	RPS6KA6_ENST00000543399.1_Silent_p.V128V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	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			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													7	63					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887447	25887447	+	Silent	SNP	G	G	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	ENST00000376351.3	+	11	3251	c.2892G>A	c.(2890-2892)gcG>gcA	p.A964A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	964						integral to membrane|plasma membrane	G-protein coupled receptor activity			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													6	117					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936403	38936403	+	Missense_Mutation	SNP	C	C	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	ENST00000302328.3	-	15	2654	c.2456G>A	c.(2455-2457)aGa>aAa	p.R819K	SCN11A_ENST00000444237.2_Missense_Mutation_p.R819K|SCN11A_ENST00000450244.1_Missense_Mutation_p.R819K|SCN11A_ENST00000456224.3_Missense_Mutation_p.R819K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	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													7	55					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128522	161128522	+	Missense_Mutation	SNP	C	C	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	ENST00000523217.1	+	9	1317	c.1075C>T	c.(1075-1077)Cat>Tat	p.H359Y	GABRA6_ENST00000274545.5_Missense_Mutation_p.H369Y	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	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(1)		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)			4	79					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409843	121409843	+	Missense_Mutation	SNP	G	G	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	ENST00000393667.3	-	14	8478	c.8368C>T	c.(8368-8370)Ctt>Ttt	p.L2790F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2785F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2785					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			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													5	65					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295800	212295800	+	Missense_Mutation	SNP	C	C	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	ENST00000342788.4	-	21	2823	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.R838Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.R828Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	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)			7	88					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072559	108072559	+	Missense_Mutation	SNP	G	G	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.chr3:108072559G>A	ENST00000357759.5	+	4	764	c.350G>A	c.(349-351)gGa>gAa	p.G117E	HHLA2_ENST00000489514.2_Missense_Mutation_p.G117E|HHLA2_ENST00000467562.1_Missense_Mutation_p.G53E|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117E|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117E	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTGGACGAAGGAATTTACACC	0.403000													4	40					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77271293	77271293	+	Silent	SNP	C	C	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	ENST00000341514.6	+	12	2696	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	ATP7A_ENST00000343533.5_Silent_p.I769I|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	847					ATP biosynthetic process|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|T-helper cell differentiation|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						GTGGAGATATCATTAAAGTAG	0.398000													11	134					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282971	152282971	+	Missense_Mutation	SNP	C	C	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	ENST00000368799.1	-	3	4426	c.4391G>A	c.(4390-4392)gGa>gAa	p.G1464E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	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				35	246					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229838	87229838	+	Missense_Mutation	SNP	C	C	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	ENST00000297524.3	-	3	1143	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G338E	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	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													8	91					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067233	9067233	+	Missense_Mutation	SNP	C	C	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	ENST00000397910.4	-	3	20416	c.20213G>A	c.(20212-20214)cGa>cAa	p.R6738Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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													24	215					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251205	171251205	+	Missense_Mutation	SNP	G	G	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	ENST00000354841.4	+	6	1047	c.916G>A	c.(916-918)Gta>Ata	p.V306I	FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.V243I			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	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	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			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													6	36					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	C	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	ENST00000317746.2	-	1	315	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	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													6	31					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236025	106236025	+	RNA	SNP	G	G	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.chr14:106236025G>A	ENST00000390551.2	-	0	778																											TCTCGATGGGGGCTGGGAGGG	0.607000													12	184					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535602	52535602	+	Silent	SNP	G	G	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	ENST00000216286.5	-	1	110	c.111C>T	c.(109-111)ttC>ttT	p.F37F	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	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													7	52					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51293268	51293268	+	Silent	SNP	C	C	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	ENST00000261842.5	+	20	3247	c.3141C>T	c.(3139-3141)tcC>tcT	p.S1047S	AP4E1_ENST00000560508.1_Silent_p.S972S|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	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													4	81					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Missense_Mutation	SNP	C	C	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	ENST00000370658.5	-	5	626	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	LGSN_ENST00000370657.4_Silent_p.T338T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					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													5	74					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383212	152383212	+	Missense_Mutation	SNP	C	C	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	ENST00000271835.3	-	3	408	c.346G>A	c.(346-348)Gga>Aga	p.G116R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	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													17	350					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726307	121726307	+	Missense_Mutation	SNP	C	C	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	ENST00000452319.1	+	6	721	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P221S			P10070	GLI2_HUMAN	GLI family zinc finger 2	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													9	86					0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307569	146307569	+	Silent	SNP	C	C	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	ENST00000443512.1	-	6	1651	c.648G>A	c.(646-648)ggG>ggA	p.G216G	PLSCR5_ENST00000492200.1_Silent_p.G216G|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Silent_p.G204G	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	216										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTGAAATCTTCCCAATTGTAA	0.333000													6	77					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301039	110301039	+	Missense_Mutation	SNP	G	G	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.chr1:110301039G>A	ENST00000369805.3	-	8	848	c.619C>T	c.(619-621)Cca>Tca	p.P207S	EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P206S|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P206S	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	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)		AGGGGCCTTGGGGATGGTGGG	0.597000													13	158					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503934	71503934	+	Missense_Mutation	SNP	A	A	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	ENST00000265382.3	+	7	661	c.356A>G	c.(355-357)aAc>aGc	p.N119S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.N119S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	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													6	95					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212168	155212168	+	Missense_Mutation	SNP	T	T	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	ENST00000460012.1	-	16	2300	c.1943A>G	c.(1942-1944)aAc>aGc	p.N648S	PLCH1_ENST00000494598.1_Missense_Mutation_p.N666S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N648S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N666S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N666S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N648S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	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													4	35					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153272	105153272	+	Missense_Mutation	SNP	G	G	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	ENST00000428173.2	+	13	1945	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	NRK_ENST00000243300.9_Missense_Mutation_p.E547K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	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)			3	27					0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136277544	136277544	+	Missense_Mutation	SNP	G	G	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	ENST00000371942.3	-	4	984	c.785C>T	c.(784-786)gCc>gTc	p.A262V	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	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													11	161					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245397	46245397	+	Silent	SNP	G	G	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	ENST00000296140.3	-	2	533	c.408C>T	c.(406-408)gtC>gtT	p.V136V	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	136					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|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													4	53					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921606	130921606	+	Missense_Mutation	SNP	G	G	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	ENST00000261655.4	-	10	1999	c.1836C>G	c.(1834-1836)gaC>gaG	p.D612E	RIMBP2_ENST00000535703.1_Missense_Mutation_p.D520E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D520E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	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													3	17					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603426	111603426	+	Missense_Mutation	SNP	G	G	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	ENST00000431670.2	+	2	913	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	PHLDB2_ENST00000478922.1_Missense_Mutation_p.E168K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E168K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E168K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E195K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E168K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E168K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	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													5	62					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061021	189061021	+	Silent	SNP	G	G	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.chr4:189061021G>A	ENST00000332517.3	+	1	449	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	103					multicellular organismal development		ligase activity|zinc ion binding			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)		CCACTGCCAAGGCGCTCTCCG	0.647000													4	37					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	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.chr9:41962602G>C	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													6	50					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121157743	121157743	+	Missense_Mutation	SNP	C	C	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	ENST00000344651.4	+	5	704	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	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													7	52					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188318	152188318	+	Silent	SNP	G	G	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	ENST00000368801.2	-	3	5862	c.5787C>G	c.(5785-5787)ggC>ggG	p.G1929G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	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													17	893					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85422156	85422156	+	Missense_Mutation	SNP	G	G	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	ENST00000370608.3	-	4	590	c.523C>T	c.(523-525)Cct>Tct	p.P175S	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.P147S	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	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													11	120					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457483	124457483	+	Silent	SNP	G	G	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	ENST00000329446.4	-	3	805	c.774C>T	c.(772-774)taC>taT	p.Y258Y		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	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													5	75					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230695492	230695492	+	Missense_Mutation	SNP	G	G	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	ENST00000283943.5	-	6	1368	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.S445F|TRIP12_ENST00000389045.3_Missense_Mutation_p.S100F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	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													5	52					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137713982	137713982	+	Missense_Mutation	SNP	C	C	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	ENST00000371817.3	+	59	5008	c.4594C>T	c.(4594-4596)Ccc>Tcc	p.P1532S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	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													6	91					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071651	53071651	+	Missense_Mutation	SNP	G	G	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.chr8:53071651G>A	ENST00000276480.7	-	15	2296	c.1613C>T	c.(1612-1614)cCa>cTa	p.P538L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	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)				AAATTTCACTGGATTTGGAAA	0.418000													4	62					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41309749	41309749	+	Missense_Mutation	SNP	C	C	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.chr6:41309749C>T	ENST00000373086.3	+	4	568	c.542C>T	c.(541-543)cCc>cTc	p.P181L	NCR2_ENST00000373089.5_Intron|NCR2_ENST00000373083.4_Intron	NM_001199509.1	NP_001186438.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	174					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCGTCCTCTCCCCTTCCTGTC	0.662000													5	81					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006813	24006813	+	Missense_Mutation	SNP	G	G	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	ENST00000328046.8	-	4	1295	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	347										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAATACTTTGGAAGAAGCATG	0.488000													13	132					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116856657	116856657	+	Nonsense_Mutation	SNP	G	G	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	ENST00000374118.3	-	9	1021	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	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													8	92					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Silent	SNP	C	C	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	ENST00000389413.3	-	16	2452	c.2349G>A	c.(2347-2349)agG>agA	p.R783R	PTPRN2_ENST00000389418.4_Silent_p.R812R|PTPRN2_ENST00000409483.1_Silent_p.R774R|PTPRN2_ENST00000389416.4_Silent_p.R795R|PTPRN2_ENST00000404321.2_Silent_p.R835R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	812	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R812R(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													9	51					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663266	99663266	+	Missense_Mutation	SNP	C	C	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	ENST00000373034.4	-	1	2005	c.330G>A	c.(328-330)atG>atA	p.M110I	PCDH19_ENST00000255531.7_Missense_Mutation_p.M110I|PCDH19_ENST00000420881.2_Missense_Mutation_p.M110I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	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													4	87					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34646038	34646038	+	Missense_Mutation	SNP	T	T	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	ENST00000537011.1	+	5	1422	c.1040T>C	c.(1039-1041)cTa>cCa	p.L347P	NUTM1_ENST00000438749.3_Missense_Mutation_p.L337P|NUTM1_ENST00000333756.4_Missense_Mutation_p.L319P					NUT midline carcinoma, family member 1																		CTTGATCCTCTAGGGCCCCTG	0.542000													4	75					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921515	12921515	+	Missense_Mutation	SNP	G	G	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	ENST00000240189.2	+	4	1393	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	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													10	88					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713800	142713800	+	RNA	SNP	C	C	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.chr1:142713800C>T	ENST00000369381.2	-	0	805																											GTGCATATTTCCTGTCTGAGT	0.274000													5	54					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41309748	41309748	+	Missense_Mutation	SNP	C	C	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.chr6:41309748C>T	ENST00000373086.3	+	4	567	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	NCR2_ENST00000373089.5_Intron|NCR2_ENST00000373083.4_Intron	NM_001199509.1	NP_001186438.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	174					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCGTCCTCTCCCCTTCCTGT	0.662000													5	80					0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80043929	80043929	+	Missense_Mutation	SNP	C	C	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	ENST00000341700.6	-	5	1130	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	206					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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													13	156					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557675	210557675	+	Missense_Mutation	SNP	G	G	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.chr2:210557675G>A	ENST00000360351.4	+	7	1287	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E257K|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	261					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACTCCAAAAGAACAAAAGGA	0.498000													8	63					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891856	44891856	+	Missense_Mutation	SNP	C	C	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	ENST00000330997.4	-	4	615	c.551G>A	c.(550-552)aGc>aAc	p.S184N	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S184N|ZNF285_ENST00000591679.1_Missense_Mutation_p.S191N	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCAACTGAGGCTGTCATCATG	0.453000													9	89					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361551	105361551	+	Silent	SNP	G	G	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	ENST00000297581.2	+	2	820	c.771G>A	c.(769-771)agG>agA	p.R257R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.R257R	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	257					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTGATGAAAGGGAGAGACATC	0.473000													6	75					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418435	178418435	+	Missense_Mutation	SNP	C	C	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	ENST00000231188.5	-	3	1025	c.847G>A	c.(847-849)Gat>Aat	p.D283N	GRM6_ENST00000517717.1_Missense_Mutation_p.D283N	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	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													12	167					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891407	18891407	+	Missense_Mutation	SNP	C	C	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	ENST00000317658.3	+	1	363	c.205C>T	c.(205-207)Cca>Tca	p.P69S		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	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													5	62					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853227	35853227	+	Silent	SNP	C	C	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	ENST00000377988.2	+	12	2344	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TMEM8B_ENST00000377991.4_Silent_p.F352F	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	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													12	131					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119056848	119056848	+	Missense_Mutation	SNP	C	C	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.chr11:119056848C>T	ENST00000355547.5	+	3	107	c.92C>T	c.(91-93)tCc>tTc	p.S31F	PDZD3_ENST00000531114.1_5'UTR|PDZD3_ENST00000525131.1_5'UTR|PDZD3_ENST00000322712.4_Missense_Mutation_p.S31F	NM_001168468.1	NP_001161940.1	Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	0					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CCTGTCCTCTCCCTGGCCGAA	0.582000													5	85					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537752	55537752	+	Missense_Mutation	SNP	G	G	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	ENST00000220676.1	+	4	1458	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	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													4	83					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22045684	22045684	+	Splice_Site	SNP	C	C	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.chr10:22045684C>T	ENST00000376980.3	-	12	1887	c.1596_splice	c.e12-1	p.E533_splice		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	533	SANT 2.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ATACAGTCTTCCTGTAGGAAG	0.443000													4	52					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607504	84607504	+	Missense_Mutation	SNP	C	C	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	ENST00000344803.2	+	4	2166	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCGCAGAATCCATGAGTCTCT	0.483000													4	66					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57738925	57738925	+	Silent	SNP	G	G	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	ENST00000360716.3	+	7	1058	c.837G>A	c.(835-837)agG>agA	p.R279R	CCDC135_ENST00000336825.8_Silent_p.R214R|CCDC135_ENST00000394337.4_Silent_p.R279R			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	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													5	29					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596905	39596905	+	Missense_Mutation	SNP	C	C	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	ENST00000246646.3	-	1	268	c.269G>A	c.(268-270)gGa>gAa	p.G90E		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	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													6	74					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570448	53570448	+	Silent	SNP	G	G	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	ENST00000025008.5	-	15	2464	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	RB1CC1_ENST00000435644.2_Silent_p.S647S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.S647S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	647					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	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													6	39					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542839	55542839	+	Missense_Mutation	SNP	C	C	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.chr8:55542839C>T	ENST00000220676.1	+	4	6545	c.6397C>T	c.(6397-6399)Ctt>Ttt	p.L2133F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2133					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)			GGGTGAAAATCTTTTCATTTG	0.323000													3	36					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612140	16612140	+	Missense_Mutation	SNP	G	G	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	ENST00000443444.2	+	5	909	c.769G>A	c.(769-771)Gat>Aat	p.D257N	CCDC144A_ENST00000360524.8_Missense_Mutation_p.D257N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D256N|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D257N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D257N			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	257																	AATGGCTAAGGATTGCGATAG	0.383000													5	59					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843076	123843076	+	Missense_Mutation	SNP	C	C	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	ENST00000369005.1	+	4	1401	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A354V|TACC2_ENST00000453444.2_Missense_Mutation_p.A354V|TACC2_ENST00000515273.1_Missense_Mutation_p.A354V|TACC2_ENST00000334433.3_Missense_Mutation_p.A354V|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	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													10	58					0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135630985	135630985	+	Missense_Mutation	SNP	C	C	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	ENST00000370634.3	+	3	622	c.452C>A	c.(451-453)cCc>cAc	p.P151H		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	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													12	162					9.31168e-06	9.33998e-06	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194081289	194081289	+	Missense_Mutation	SNP	C	C	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	ENST00000347624.3	-	2	569	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	LRRC15_ENST00000439944.2_Missense_Mutation_p.E168K|LRRC15_ENST00000428839.1_Missense_Mutation_p.E168K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	162						integral to membrane				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													15	149					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868132	20868132	+	Missense_Mutation	SNP	C	C	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	ENST00000381552.1	+	6	957	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R197C|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R79C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R197C			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	197					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.R197C(3)		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													8	128					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853291	40853291	+	Silent	SNP	G	G	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	ENST00000254691.5	+	3	2056	c.1857G>A	c.(1855-1857)agG>agA	p.R619R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	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													11	126					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171073016	171073016	+	Missense_Mutation	SNP	C	C	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	ENST00000367755.4	+	3	334	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.P55S|FMO3_ENST00000392085.2_Missense_Mutation_p.P75S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	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													4	66					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731262	21731262	+	Silent	SNP	C	C	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.chr17:21731262C>T	ENST00000584755.1	+	2	961	c.564C>T	c.(562-564)atC>atT	p.I188I	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAGAAGGCATCCCCCCGATCA	0.537000													4	50					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822825	38822825	+	Missense_Mutation	SNP	G	G	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	ENST00000303592.3	-	2	1571	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	438					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			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													12	130					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059723	9059723	+	Silent	SNP	G	G	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	ENST00000397910.4	-	3	27926	c.27723C>T	c.(27721-27723)gtC>gtT	p.V9241V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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													8	75					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022107	120022107	+	Silent	SNP	G	G	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	ENST00000379551.2	+	3	906	c.549G>A	c.(547-549)cgG>cgA	p.R183R	PRR16_ENST00000446965.1_Silent_p.R136R|PRR16_ENST00000505123.1_Silent_p.R136R|PRR16_ENST00000407149.2_Silent_p.R206R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	206	Pro-rich.									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													5	44					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065210	23065210	+	Silent	SNP	G	G	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	ENST00000246006.4	-	1	1767	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	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													7	72					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713770	23713770	+	Missense_Mutation	SNP	C	C	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	ENST00000256797.4	-	10	1334	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	ERN2_ENST00000457008.2_Missense_Mutation_p.S341N	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	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													7	134					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718593	103718593	+	Missense_Mutation	SNP	C	C	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.chr13:103718593C>T	ENST00000245312.3	-	1	603	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	3					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)					CTGTTCGGATCATTCATTGCT	0.507000													7	67					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901185	102901185	+	Silent	SNP	C	C	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	ENST00000359520.7	+	9	2257	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	TECPR2_ENST00000558678.1_Silent_p.P677P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	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													3	33					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113699951	113699951	+	Missense_Mutation	SNP	G	G	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	ENST00000003302.4	-	10	1095	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	USP28_ENST00000545540.1_Missense_Mutation_p.P218S|USP28_ENST00000537706.1_Missense_Mutation_p.P343S|USP28_ENST00000544967.1_Missense_Mutation_p.P51S|USP28_ENST00000260188.5_Missense_Mutation_p.P343S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	343					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|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													4	52					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121053	104121053	+	Silent	SNP	C	C	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	ENST00000388887.2	+	47	5064	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	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(1)		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													10	251					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622241	41622241	+	Missense_Mutation	SNP	G	G	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	ENST00000331105.2	+	2	220	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	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													13	223					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901064	123901064	+	Silent	SNP	C	C	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	ENST00000431524.1	+	1	768	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I245I(1)		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													7	68					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444108	15444108	+	Silent	SNP	C	C	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	ENST00000295297.4	+	3	835	c.576C>T	c.(574-576)ttC>ttT	p.F192F	C1QTNF7_ENST00000429690.1_Silent_p.F185F|C1QTNF7_ENST00000444304.2_Silent_p.F185F	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	185	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAGGGAAGTTCATCTGTGCTT	0.438000													15	250					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077539	119077539	+	Silent	SNP	C	C	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	ENST00000371410.3	-	1	196	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	10	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|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													8	46					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682439	114682439	+	Missense_Mutation	SNP	C	C	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	ENST00000393296.1	-	2	387	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	SYT6_ENST00000369547.1_Missense_Mutation_p.E19K			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	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													10	140					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237490	140237490	+	Silent	SNP	C	C	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	ENST00000307360.5	+	1	1857	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCACGCATCCCGTTTCGCG	0.637000													4	23					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570670	17570670	+	Missense_Mutation	SNP	G	G	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	ENST00000375471.4	+	16	2016	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	PADI1_ENST00000536552.1_Missense_Mutation_p.E113K|PADI1_ENST00000537499.1_Missense_Mutation_p.E199K|PADI1_ENST00000413717.2_Missense_Mutation_p.E157K|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	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													4	72					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129156903	129156903	+	Silent	SNP	C	C	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	ENST00000540052.1	+	5	3683	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F	BCORL1_ENST00000218147.7_Silent_p.F1213F|BCORL1_ENST00000359304.2_Silent_p.F1213F|BCORL1_ENST00000303743.5_Silent_p.F1213F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	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													11	168					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691434	7691434	+	Missense_Mutation	SNP	G	G	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.chr17:7691434G>A	ENST00000572933.1	+	44	8232	c.6772G>A	c.(6772-6774)Gaa>Aaa	p.E2258K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2258K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2258	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGCATGTTCGAAAAGCTCAT	0.537000													6	52					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177007	71177007	+	Missense_Mutation	SNP	G	G	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	ENST00000333538.5	+	11	2307	c.1673G>A	c.(1672-1674)gGa>gAa	p.G558E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	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													7	96					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142240016	142240016	+	RNA	SNP	G	G	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.chr7:142240016G>A	ENST00000390363.2	-	0	42																											GCCCATGGCAGGATCTCCTAG	0.517000													4	46					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4500618	4500618	+	Splice_Site	SNP	A	A	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	ENST00000389313.4	+	7	1326	c.1259_splice	c.e7+1	p.E420_splice	SMTNL2_ENST00000338859.4_Splice_Site_p.E276_splice	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	420	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		ACCATGGCCGAGTGAGTATGG	0.632000													8	80					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589843	140589843	+	Missense_Mutation	SNP	C	C	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	ENST00000239450.2	+	1	1553	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S118F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		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													5	131					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979028	120979028	+	Missense_Mutation	SNP	G	G	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.chr7:120979028G>A	ENST00000222462.2	+	4	1017	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	WNT16_ENST00000361301.2_Missense_Mutation_p.E233K	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	243					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GTCTTCTTTTGAAAAGATTGG	0.433000													4	47					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21151925	21151925	+	Missense_Mutation	SNP	C	C	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	ENST00000261383.3	-	5	627	c.628G>A	c.(628-630)Gat>Aat	p.D210N	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.D210N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	210	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACATGACATCGAGCTGCTGT	0.483000													8	105					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104056703	104056703	+	Missense_Mutation	SNP	G	G	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	ENST00000388887.2	+	18	2153	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	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													9	126					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10235497	10235497	+	Silent	SNP	G	G	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.chr17:10235497G>A	ENST00000418404.3	-	19	2380	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	MYH13_ENST00000570743.1_Silent_p.F739F|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F739F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	739	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTGTCAATGAACTGCCCTT	0.522000													5	105					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84217325	84217325	+	Silent	SNP	G	G	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	ENST00000567759.1	-	3	380	c.198C>T	c.(196-198)ctC>ctT	p.L66L	TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000541676.1_5'UTR|TAF1C_ENST00000341690.6_5'UTR|TAF1C_ENST00000378541.4_Silent_p.L66L|TAF1C_ENST00000566732.1_Silent_p.L66L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	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													4	71					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322527	134322527	+	Missense_Mutation	SNP	C	C	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.chr3:134322527C>T	ENST00000508956.1	-	10	1874	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.G627E			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTGCAGCTTCCCTCCCAGTA	0.517000													5	92					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510853	5510853	+	Missense_Mutation	SNP	G	G	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	ENST00000322641.5	+	1	939	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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													4	59					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45885690	45885690	+	Silent	SNP	G	G	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	ENST00000007414.3	-	23	2687	c.2496C>T	c.(2494-2496)ggC>ggT	p.G832G	OSBPL7_ENST00000392507.3_Silent_p.G832G	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	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													4	59					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092442	30092442	+	RNA	SNP	C	C	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	ENST00000567636.1	+	0	817					NR_003558.1																						CTCCTCAAGTCGTGCAGATGT	0.547000													7	78					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303676	134303676	+	Missense_Mutation	SNP	C	C	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	ENST00000344129.2	-	2	347	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CXorf48_ENST00000276241.6_Missense_Mutation_p.G41R	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	41										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTGACAACTCCCTGCACAGTT	0.418000													4	35					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771516	143771516	+	Silent	SNP	C	C	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	ENST00000408898.2	+	1	242	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	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													9	71					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823612	70823612	+	Missense_Mutation	SNP	A	A	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	ENST00000373695.1	+	7	1022	c.485A>G	c.(484-486)aAc>aGc	p.N162S	ACRC_ENST00000373696.3_Missense_Mutation_p.N162S			Q96QF7	ACRC_HUMAN	acidic repeat containing	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													4	306					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30856031	30856031	+	Missense_Mutation	SNP	C	C	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	ENST00000215812.4	-	12	1270	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	SEC14L3_ENST00000401751.1_Missense_Mutation_p.D335N|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000402286.1_Missense_Mutation_p.D317N|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D335N|SEC14L3_ENST00000540910.1_Missense_Mutation_p.D317N	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	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													4	41					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71008511	71008511	+	Missense_Mutation	SNP	C	C	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	ENST00000318789.4	-	21	2446	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	FOXP1_ENST00000491238.1_Missense_Mutation_p.D643N|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577N|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641N|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565N|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641N|FOXP1_ENST00000493089.1_Missense_Mutation_p.D640N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	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	chromatin binding|DNA bending activity|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								4	53					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33958990	33958990	+	Missense_Mutation	SNP	G	G	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	ENST00000361328.3	+	7	1801	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	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													7	88					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057744	180057744	+	Missense_Mutation	SNP	C	C	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	ENST00000261937.6	-	3	289	c.211G>A	c.(211-213)Gga>Aga	p.G71R	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.G71R|FLT4_ENST00000502649.1_Missense_Mutation_p.G71R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	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(2)		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													5	36					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851902	46851902	+	Silent	SNP	G	G	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	ENST00000283296.7	-	5	723	c.435C>T	c.(433-435)ttC>ttT	p.F145F	GPR116_ENST00000265417.7_Silent_p.F145F|GPR116_ENST00000362015.4_Silent_p.F145F|GPR116_ENST00000456426.2_Silent_p.F145F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	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													5	114					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404440	20404440	+	Silent	SNP	G	G	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.chr14:20404440G>A	ENST00000285600.4	+	1	674	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGCCTGATATCATTGA	0.438000													4	117					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861881	25861881	+	Missense_Mutation	SNP	C	C	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	ENST00000397060.4	-	5	705	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	SLC17A3_ENST00000361703.6_Missense_Mutation_p.R121Q|SLC17A3_ENST00000360657.3_Missense_Mutation_p.R121Q	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	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													4	110					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625338	140625338	+	Silent	SNP	C	C	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	ENST00000231173.3	+	1	192	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		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													7	69					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078502	56078502	+	Silent	SNP	C	C	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	ENST00000429804.2	-	9	2240	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	CTCFL_ENST00000502686.2_Silent_p.A348A|CTCFL_ENST00000243914.3_Silent_p.A610A|CTCFL_ENST00000433949.2_Silent_p.A610A|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Silent_p.A610A|CTCFL_ENST00000371196.2_Silent_p.A610A|CTCFL_ENST00000422109.2_3'UTR	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	610					cell cycle|DNA methylation involved in gamete generation|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													12	120					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246848	7246848	+	Silent	SNP	G	G	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	ENST00000158762.3	+	6	701	c.495G>A	c.(493-495)ggG>ggA	p.G165G	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	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													6	65					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576493	158576493	+	Missense_Mutation	SNP	G	G	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	ENST00000361284.1	+	1	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	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													21	217					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1624740	1624740	+	Silent	SNP	C	C	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	ENST00000380815.4	-	10	1292	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.Q311Q	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	341					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		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													3	28					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962938	2962938	+	Missense_Mutation	SNP	C	C	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	ENST00000396946.4	-	16	2373	c.1970G>A	c.(1969-1971)gGg>gAg	p.G657E		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	657					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			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								4	62					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135076273	135076273	+	Missense_Mutation	SNP	A	A	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	ENST00000409645.1	+	5	788	c.536A>T	c.(535-537)gAt>gTt	p.D179V	MGAT5_ENST00000281923.2_Missense_Mutation_p.D179V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	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													9	169					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161023168	161023168	+	Missense_Mutation	SNP	C	C	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	ENST00000368013.3	-	6	864	c.544G>A	c.(544-546)Gac>Aac	p.D182N	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D5N|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D182N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	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													8	49					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	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	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				5	59					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57859603	57859603	+	Silent	SNP	G	G	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	ENST00000228682.2	+	7	748	c.657G>A	c.(655-657)gaG>gaA	p.E219E	GLI1_ENST00000546141.1_Silent_p.E178E|GLI1_ENST00000543426.1_Silent_p.E91E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	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													7	79					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201012551	201012551	+	Missense_Mutation	SNP	C	C	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	ENST00000362061.3	-	40	5132	c.4906G>A	c.(4906-4908)Gaa>Aaa	p.E1636K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1617K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	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)	13	63					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398581	10398581	+	Silent	SNP	G	G	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	ENST00000226207.5	-	36	5317	c.5223C>T	c.(5221-5223)atC>atT	p.I1741I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1741						muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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													6	116					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121698406	121698406	+	Missense_Mutation	SNP	G	G	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	ENST00000264808.3	-	13	1714	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PRDM5_ENST00000428209.2_Missense_Mutation_p.P461S|PRDM5_ENST00000515109.1_Missense_Mutation_p.P461S	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	492					histone deacetylation|histone H3-K9 methylation|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													5	77					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566609	55566609	+	Silent	SNP	C	C	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	ENST00000373965.2	-	36	5179	c.4785G>A	c.(4783-4785)ctG>ctA	p.L1595L	PCDH15_ENST00000414778.1_Silent_p.L1592L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	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)			13	213					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883382	52883382	+	Missense_Mutation	SNP	G	G	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	ENST00000343457.3	-	1	404	c.398C>T	c.(397-399)tCc>tTc	p.S133F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	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													10	125					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135392921	135392921	+	Nonsense_Mutation	SNP	C	C	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	ENST00000354042.4	-	3	995	c.306G>A	c.(304-306)tgG>tgA	p.W102*	AC091736.10_ENST00000378428.3_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	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													12	131					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060513	56060513	+	Missense_Mutation	SNP	T	T	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	ENST00000584396.1	-	2	336	c.248A>T	c.(247-249)cAc>cTc	p.H83L	VEZF1_ENST00000581208.1_Missense_Mutation_p.H92L			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	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													7	87					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241426	163241426	+	Missense_Mutation	SNP	C	C	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	ENST00000332142.5	-	13	2833	c.2734G>A	c.(2734-2736)Gac>Aac	p.D912N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	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													5	80					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039151	184039151	+	Missense_Mutation	SNP	C	C	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	ENST00000342981.4	+	9	1193	c.779C>T	c.(778-780)tCg>tTg	p.S260L	EIF4G1_ENST00000414031.1_Missense_Mutation_p.S220L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S260L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S64L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S267L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S96L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S267L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S173L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S173L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S96L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S260L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S220L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S267L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S64L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	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													4	67					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634003	70634003	+	Silent	SNP	C	C	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	ENST00000381269.2	-	2	1890	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	SLC8A3_ENST00000357887.3_Silent_p.K379K|SLC8A3_ENST00000356921.2_Silent_p.K379K|SLC8A3_ENST00000528359.1_Silent_p.K379K|SLC8A3_ENST00000534137.1_Silent_p.K379K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	379					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.K379K(1)		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													6	105					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418737	55418737	+	Missense_Mutation	SNP	C	C	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	ENST00000312422.2	+	1	358	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		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													14	91					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762262	96762262	+	Missense_Mutation	SNP	A	A	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	ENST00000295266.4	+	1	1024	c.961A>G	c.(961-963)Aga>Gga	p.R321G		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	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													11	71					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301835	77301835	+	Missense_Mutation	SNP	G	G	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	ENST00000341514.6	+	23	4426	c.4271G>A	c.(4270-4272)aGc>aAc	p.S1424N	ATP7A_ENST00000343533.5_Missense_Mutation_p.S1346N|ATP7A_ENST00000350425.4_Missense_Mutation_p.S427N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1424					ATP biosynthetic process|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|T-helper cell differentiation|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													7	166					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70513913	70513913	+	Missense_Mutation	SNP	G	G	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	ENST00000260128.4	+	10	1627	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	SULF1_ENST00000402687.4_Missense_Mutation_p.G304R|SULF1_ENST00000458141.2_Missense_Mutation_p.G304R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.G304R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	304					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.G304R(1)		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													4	96					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097377	69097377	+	Missense_Mutation	SNP	G	G	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	ENST00000543976.1	-	2	725	c.479C>T	c.(478-480)tCa>tTa	p.S160L	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S160L|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	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													13	175					0	0	1	0	0
UBE2A	7319	broad.mit.edu	37	X	118709340	118709340	+	Missense_Mutation	SNP	C	C	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	ENST00000371558.2	+	3	302	c.128C>T	c.(127-129)cCt>cTt	p.P43L	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Missense_Mutation_p.P43L	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	43					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|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					9	108					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440076	25440076	+	RNA	SNP	G	G	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.chr15:25440076G>A	ENST00000424208.1	+	0	1460				SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1																						TTGGGTCGATGATGAGAAACT	0.522000													18	274					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977559	71977559	+	Missense_Mutation	SNP	C	C	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	ENST00000266674.5	+	18	2080	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	LGR5_ENST00000540815.2_Missense_Mutation_p.S566F|LGR5_ENST00000536515.1_Missense_Mutation_p.S518F|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	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													8	110					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413800	2413800	+	Missense_Mutation	SNP	G	G	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	ENST00000332578.3	+	9	1255	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	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													6	61					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129281738	129281738	+	Missense_Mutation	SNP	G	G	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	ENST00000287295.3	-	4	693	c.463C>T	c.(463-465)Cct>Tct	p.P155S	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.P68S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P151S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	155	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	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													8	126					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34993985	34993985	+	Missense_Mutation	SNP	G	G	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	ENST00000250454.3	-	5	580	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	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													6	47					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432773	72432773	+	Missense_Mutation	SNP	C	C	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.chr4:72432773C>T	ENST00000425175.1	+	24	3269	c.3152C>T	c.(3151-3153)cCt>cTt	p.P1051L	SLC4A4_ENST00000351898.6_3'UTR|SLC4A4_ENST00000264485.5_3'UTR|SLC4A4_ENST00000340595.3_3'UTR	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GATAAAATTCCTTTCCTTCAG	0.373000													6	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076180	9076180	+	Missense_Mutation	SNP	C	C	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	ENST00000397910.4	-	3	11469	c.11266G>A	c.(11266-11268)Ggg>Agg	p.G3756R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3757	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						GTTGTGGCCCCCTGAGGAGCT	0.532000													7	119					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112912	59112912	+	Missense_Mutation	SNP	C	C	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	ENST00000395153.3	+	4	1607	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	DACT1_ENST00000541264.2_Missense_Mutation_p.P243L|DACT1_ENST00000395151.3_Missense_Mutation_p.P243L|DACT1_ENST00000335867.4_Missense_Mutation_p.P524L|DACT1_ENST00000556859.1_Missense_Mutation_p.P243L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	524					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCACTCCTCCCCTGCTGTCT	0.607000													11	97					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677844	3677844	+	Splice_Site	SNP	G	G	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	ENST00000294600.2	+	5	795		c.e5-1			NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27											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													6	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100497	168100497	+	Silent	SNP	G	G	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	ENST00000409195.1	+	9	2684	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.E643E|XIRP2_ENST00000295237.9_Silent_p.E865E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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													9	96					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917616	97917616	+	RNA	SNP	C	C	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	ENST00000534948.1	+	0	2394							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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													9	114					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323261	57323261	+	Missense_Mutation	SNP	C	C	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	ENST00000293502.1	-	3	780	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	213						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCCAGGTTCTCCTTGCCGAGA	0.542000													9	108					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889204	147889204	+	Silent	SNP	G	G	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	ENST00000360693.3	-	6	1029	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HTR4_ENST00000521735.1_Silent_p.F297F|HTR4_ENST00000521530.1_Silent_p.F297F|HTR4_ENST00000377888.3_Silent_p.F297F|HTR4_ENST00000314512.6_Silent_p.F297F|HTR4_ENST00000517929.1_Silent_p.F297F|HTR4_ENST00000520514.1_Silent_p.F297F|HTR4_ENST00000362016.2_Silent_p.F311F|HTR4_ENST00000354217.2_Silent_p.F297F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	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													4	57					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115439694	115439694	+	Missense_Mutation	SNP	G	G	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.chr3:115439694G>A	ENST00000393780.3	+	4	1258	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	GAP43_ENST00000305124.6_Missense_Mutation_p.E228K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	228					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CGAGGGTAAAGAAGAGGAACC	0.502000													4	141					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242709	60242709	+	Missense_Mutation	SNP	C	C	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	ENST00000269499.5	+	13	3813	c.3395C>T	c.(3394-3396)tCa>tTa	p.S1132L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S811L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1132					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			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													3	41					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11539978	11539978	+	Missense_Mutation	SNP	G	G	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	ENST00000262442.3	+	9	1731	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E555K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	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													4	61					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621888	234621888	+	Nonsense_Mutation	SNP	G	G	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	ENST00000373414.3	+	1	251	c.251G>A	c.(250-252)tGg>tAg	p.W84*	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCATTTCATGGACCCAGGAC	0.448000													8	74					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68728456	68728456	+	Missense_Mutation	SNP	C	C	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	ENST00000325631.5	+	4	1359	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.P313S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	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													5	51					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47161718	47161718	+	Missense_Mutation	SNP	G	G	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.chr3:47161718G>A	ENST00000409792.3	-	3	4450	c.4408C>T	c.(4408-4410)Cca>Tca	p.P1470S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGTAACATGGCATTTTCCCT	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								4	86					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916236	45916236	+	Silent	SNP	G	G	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	ENST00000407215.3	-	5	774	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SCRN2_ENST00000290216.9_Silent_p.S231S|SCRN2_ENST00000584123.1_Silent_p.S239S			Q96FV2	SCRN2_HUMAN	secernin 2	231					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGGGTCAGGGAGAAGATCT	0.662000													10	142					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416478	9416478	+	Silent	SNP	C	C	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	ENST00000328089.6	+	2	869	c.528C>T	c.(526-528)tcC>tcT	p.S176S	SPSB1_ENST00000377399.2_Silent_p.S176S|SPSB1_ENST00000357898.3_Silent_p.S176S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	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													14	123					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135582869	135582869	+	Silent	SNP	C	C	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	ENST00000535601.1	+	5	884	c.462C>T	c.(460-462)tcC>tcT	p.S154S	HTATSF1_ENST00000218364.4_Silent_p.S154S	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	154	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA 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													7	98					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200550	86200550	+	Missense_Mutation	SNP	C	C	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.chr1:86200550C>T	ENST00000370571.2	-	59	5246	c.4880G>A	c.(4879-4881)aGg>aAg	p.R1627K	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1606K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	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)		GCTTGTCCACCTTGGGGTGTT	0.438000													9	96					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443426	150443426	+	Silent	SNP	C	C	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.chr1:150443426C>T	ENST00000401000.4	+	10	1989	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	RPRD2_ENST00000369068.4_Silent_p.L668L|RPRD2_ENST00000539519.1_Silent_p.L642L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	668	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCCCAAGCCTGGAAATGAA	0.498000													5	107					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705032	103705032	+	Missense_Mutation	SNP	G	G	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	ENST00000245312.3	-	3	1119	c.523C>T	c.(523-525)Cct>Tct	p.P175S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	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													4	56					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786832	19786832	+	Silent	SNP	G	G	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	ENST00000341998.2	-	1	94	c.33C>T	c.(31-33)tcC>tcT	p.S11S	SLC24A2_ENST00000286344.3_Silent_p.S11S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	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													11	137					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909456	123909456	+	Missense_Mutation	SNP	A	A	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	ENST00000330487.5	-	1	261	c.253T>C	c.(253-255)Tcc>Ccc	p.S85P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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													7	124					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9079293	9079293	+	Silent	SNP	G	G	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	ENST00000400906.1	-	4	410	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	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													5	41					0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874824	117874824	+	Missense_Mutation	SNP	G	G	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.chr7:117874824G>A	ENST00000357099.4	+	4	597	c.424G>A	c.(424-426)Gat>Aat	p.D142N	ANKRD7_ENST00000433239.1_Missense_Mutation_p.D69N|ANKRD7_ENST00000265224.4_Missense_Mutation_p.D122N|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D69N|ANKRD7_ENST00000477532.1_3'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	122					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGATCTGAGGGATATTCGTTA	0.378000													4	95					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26790086	26790086	+	Missense_Mutation	SNP	C	C	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.chr10:26790086C>T	ENST00000356785.4	+	5	732	c.499C>T	c.(499-501)Cct>Tct	p.P167S	APBB1IP_ENST00000376236.4_Intron			Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	0					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACCTCTGCTACCTATCACTGA	0.458000													5	58					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936385	38936385	+	Missense_Mutation	SNP	C	C	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.chr3:38936385C>T	ENST00000302328.3	-	15	2672	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E	SCN11A_ENST00000444237.2_Missense_Mutation_p.G825E|SCN11A_ENST00000450244.1_Missense_Mutation_p.G825E|SCN11A_ENST00000456224.3_Missense_Mutation_p.G825E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	825					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)	CCTGGCCTCTCCTTCTAAGTT	0.463000													4	66					0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784439	46784439	+	Missense_Mutation	SNP	C	C	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	ENST00000442359.2	-	3	416	c.417G>A	c.(415-417)atG>atA	p.M139I	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	171	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						TGGCACAGATCATGTCCCCCA	0.532000													3	21					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911105	12911105	+	Missense_Mutation	SNP	G	G	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	ENST00000301522.2	-	4	394	c.266C>T	c.(265-267)aCc>aTc	p.T89I	PRDX2_ENST00000334482.5_Missense_Mutation_p.T89I|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	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													4	82					0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50375998	50375998	+	Missense_Mutation	SNP	C	C	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	ENST00000374148.1	-	2	107	c.53G>A	c.(52-54)gGa>gAa	p.G18E	C10orf128_ENST00000374151.3_Missense_Mutation_p.G18E|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000474718.1_Missense_Mutation_p.G18E|C10orf128_ENST00000374153.2_Missense_Mutation_p.G18E			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	18						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CACTTGAGCTCCTCCTACATC	0.572000													4	99					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44413473	44413473	+	Nonsense_Mutation	SNP	C	C	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	ENST00000371477.3	+	15	2472	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	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													7	57					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	C	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	ENST00000375514.5	+	11	1458	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380C|SLC4A10_ENST00000535165.1_Silent_p.I380I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380C|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R410C	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	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													6	44					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838545	155838545	+	Missense_Mutation	SNP	C	C	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.chr3:155838545C>T	ENST00000490337.1	+	1	209	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	KCNAB1_ENST00000389636.5_Missense_Mutation_p.P49S	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	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)			CAGCCTTAGTCCCTCAGGGGA	0.537000													4	56					0	0	1	0	0
GTF2H2B	653238	broad.mit.edu	37	5	69716208	69716209	+	RNA	INS	-	-	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.chr5:69716208_69716209insT	ENST00000513202.1	+	0	197					NR_033417.1																						TAGACAATGTCTTTTTTtttct	0.302													2	4	---	---	---	---					
ACOT9	23597	broad.mit.edu	37	X	23761252	23761252	+	Frame_Shift_Del	DEL	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.chrX:23761252delC	ENST00000379303.5	-	1	138	c.10delG	c.(10-12)cafs	p.A5fs	ACOT9_ENST00000492081.1_5'UTR|ACOT9_ENST00000379295.1_Intron|ACOT9_ENST00000336430.7_Frame_Shift_Del_p.A5fs	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	5					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													2	4	---	---	---	---					
