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
GOLGA5	9950	broad.mit.edu	37	14	93264023	93264023	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:93264023A>C	ENST00000163416.2	+	2	497	c.241A>C	c.(241-243)Act>Cct	p.T81P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	81					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	p.T81P(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTTAGCTGGCACTGCAAATGT	0.413000			T	RET	papillary thyroid								10	175					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430104	10430104	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:10430104G>A	ENST00000245503.5	-	30	4383	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.N1333N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1333					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498000													5	151					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186094769	186094769	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:186094769A>G	ENST00000271588.4	+	82	12762	c.12533A>G	c.(12532-12534)tAc>tGc	p.Y4178C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4178	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Y4178C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGGACACTACACGGTCAAT	0.388000													5	98					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27782957	27782957	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:27782957G>A	ENST00000261588.4	+	22	4201	c.4182G>A	c.(4180-4182)ccG>ccA	p.P1394P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1394								p.P1394P(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGGCACCGCTGATGCCCT	0.607000													7	134					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540002	133540002	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:133540002G>A	ENST00000409261.1	-	14	4755	c.4382C>T	c.(4381-4383)gCt>gTt	p.A1461V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1461							protein binding	p.A1461V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAACTCACAGCATCAGTCGC	0.502000													19	68					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37006834	37006834	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:37006834G>A	ENST00000418263.1	+	1	426	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.E26K	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	26					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.E26K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTCAGCTGGGAAGGACCGGG	0.552000													11	41					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832484	42832484	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:42832484G>A	ENST00000314073.5	+	13	2716	c.2540G>A	c.(2539-2541)aGt>aAt	p.S847N	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S847N					GLTSCR1-like																		CAGCATGGCAGTAAAGCAAGC	0.507000													3	149					0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17705710	17705710	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr20:17705710G>A	ENST00000246090.5	+	3	302	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	14						cytoplasm|nucleus	DNA binding	p.E14K(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CTTCCTCTCCGAACCCATTGG	0.502000													42	161					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785489	11785489	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:11785489G>A	ENST00000356957.3	-	9	1745	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	TXNDC11_ENST00000283033.5_Silent_p.F519F			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	546					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.F519F(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAGTCGATGAAGCCTGACA	0.468000													98	205					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104857	184104857	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:184104857A>G	ENST00000204604.1	+	18	2555	c.2309A>G	c.(2308-2310)gAc>gGc	p.D770G	CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	770					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.D770G(1)|p.D483G(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGTCAGAGACTTGCCAGGG	0.592000													20	78					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417468	150417468	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:150417468G>T	ENST00000307194.5	+	3	516	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.A126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGTTCACCGCCCAGGACCA	0.637000													3	81					0.115264	0.123616	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764546	138764546	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:138764546G>C	ENST00000242351.5	-	4	1457	c.1141C>G	c.(1141-1143)Cta>Gta	p.L381V	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	381					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.L381V(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCGGCAGGTAGCGTGGGAGAA	0.532000													68	201					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91359112	91359112	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:91359112A>T	ENST00000307534.4	-	3	1362	c.1207T>A	c.(1207-1209)Tgc>Agc	p.C403S	PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S|PANK1_ENST00000371774.2_Missense_Mutation_p.C205S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	403					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	p.C403S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTATCAAGGCAGTACGGCTTT	0.448000													38	338					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161168	90161168	+	RNA	SNP	T	T	G	rs8055740		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:90161168T>G	ENST00000567960.1	+	0	277				TUBB8P7_ENST00000564451.1_RNA																							CCTCCTGTCCTCCGAGTCGAG	0.622000													3	7					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25486853	25486853	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:25486853T>C	ENST00000381884.4	-	2	496	c.311A>G	c.(310-312)aAg>aGg	p.K104R	CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	104					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGGTCCCTTTTTAATGCA	0.438000													5	306					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159308	23159308	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:23159308A>T	ENST00000594710.1	-	4	976	c.831T>A	c.(829-831)agT>agA	p.S277R		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CTCCAGCATGACTTCTCTTAT	0.418000													4	131					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40934857	40934857	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:40934857G>A	ENST00000246914.5	+	2	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	234	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.V234I(2)|p.V222I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAACATCGTCCGCTTCTA	0.602000													24	60					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414189	105414189	+	Silent	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:105414189A>T	ENST00000333244.5	-	7	7718	c.7599T>A	c.(7597-7599)atT>atA	p.I2533I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2533						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGGGGGCTGAATGCTGAGGT	0.667000													6	343					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977769	196977769	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:196977769G>A	ENST00000367414.5	+	10	1794	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	CFHR5_ENST00000256785.4_Missense_Mutation_p.A556T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	556					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCATTTCGAGCAATCTGTCA	0.363000													3	176					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119550	19119550	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr22:19119550C>A	ENST00000399635.2	+	1	1230	c.638C>A	c.(637-639)tCc>tAc	p.S213Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	213	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S213Y(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTCTGCGGCTCCATGCCCTAT	0.592000													87	144					4.47867e-22	5.26066e-22	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106327	168106327	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:168106327G>A	ENST00000409195.1	+	9	8514	c.8425G>A	c.(8425-8427)Gga>Aga	p.G2809R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2634					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						AGAATTTAGCGGATCTGACAG	0.403000													4	97					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156835562	156835562	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:156835562C>T	ENST00000536354.2	+	8	878	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	272					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.R272C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TGATGAGAAACGTCATGAACA	0.348000													17	46					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15731856	15731856	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:15731856C>T	ENST00000281171.4	+	20	3229	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	967	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R967C(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGTAAAAACCGTTACACAAA	0.393000													21	129					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580381	99580381	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:99580381C>T	ENST00000481138.1	-	6	2585	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G642R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GGTTTCTCCCCGGTGTGAGTT	0.433000													7	233					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129155089	129155089	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chrX:129155089C>A	ENST00000540052.1	+	4	3615	c.3571C>A	c.(3571-3573)Cag>Aag	p.Q1191K	BCORL1_ENST00000218147.7_Missense_Mutation_p.Q1191K|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K|BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Q1191K(1)		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						GCCGGAGTCCCAGTCTCCAGG	0.622000													3	23					1	1	1	1	0
MCM6	4175	broad.mit.edu	37	2	136630397	136630397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:136630397C>A	ENST00000264156.2	-	2	184	c.124G>T	c.(124-126)Gga>Tga	p.G42*		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	42					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTAATTTCTCCATCGCTGCTC	0.403000													4	171					1	1	1	1	0
TAAR8	83551	broad.mit.edu	37	6	132873901	132873901	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:132873901A>G	ENST00000275200.1	+	1	70	c.70A>G	c.(70-72)Act>Gct	p.T24A		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	24						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTGTATTGAAACTCCCTATTC	0.428000													4	309					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617396	158617396	+	Missense_Mutation	SNP	G	G	A	rs143642542	by1000genomes	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:158617396G>A	ENST00000368147.4	-	27	4009	c.3829C>T	c.(3829-3831)Cgt>Tgt	p.R1277C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTTTGTACGCCCCTGCAGG	0.562000													14	208					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36158143	36158143	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:36158143G>A	ENST00000540320.1	+	46	7678	c.7144G>A	c.(7144-7146)Gca>Aca	p.A2382T	NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000400445.3_Missense_Mutation_p.A2382T|NBEA_ENST00000537702.1_Missense_Mutation_p.A175T			Q8NFP9	NBEA_HUMAN	neurobeachin	2382	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTATTCAACAGCAACATCTAC	0.363000													5	344					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64114692	64114692	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:64114692A>T	ENST00000337130.5	+	8	1704	c.1228A>T	c.(1228-1230)Agt>Tgt	p.S410C	UGP2_ENST00000394417.2_Missense_Mutation_p.S399C|UGP2_ENST00000467648.2_Missense_Mutation_p.S399C|UGP2_ENST00000445915.2_Missense_Mutation_p.S419C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	410					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	p.S410C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AAACCTCTATAGTCTTAATGC	0.403000													8	246					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197497068	197497068	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:197497068G>A	ENST00000241502.4	+	4	672	c.450G>A	c.(448-450)caG>caA	p.Q150Q	FYTTD1_ENST00000428395.2_Silent_p.Q59Q|FYTTD1_ENST00000415708.2_Silent_p.Q124Q|FYTTD1_ENST00000424384.2_Silent_p.Q83Q	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1						mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	p.Q150Q(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ATGAAGGGCAGAGGAAACCAG	0.348000													4	21					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353000													5	11					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66463350	66463350	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:66463350T>G	ENST00000383703.3	-	6	1339	c.736A>C	c.(736-738)Aac>Cac	p.N246H	LRIG1_ENST00000273261.3_Missense_Mutation_p.N246H			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	246						integral to membrane		p.N246H(2)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTGATGTTGTTTCGCTGA	0.532000													16	60					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	120					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077003	19077003	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:19077003C>A	ENST00000329773.2	-	2	1034	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	316					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGACGGAAGCATCCTTCACT	0.552000													4	134					0.150653	0.159262	1	1	0
USP46	64854	broad.mit.edu	37	4	53468062	53468062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:53468062C>A	ENST00000441222.3	-	7	1065	c.881G>T	c.(880-882)cGc>cTc	p.R294L	USP46_ENST00000451218.2_Missense_Mutation_p.R267L|USP46_ENST00000508499.1_Missense_Mutation_p.R287L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46						behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GTCATACATGCGGTCCAGGTT	0.537000													3	105					0.004672	0.0052383	1	1	0
GRM5	2915	broad.mit.edu	37	11	88583140	88583140	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:88583140G>A	ENST00000418177.2	-	3	1212	c.845C>T	c.(844-846)aCg>aTg	p.T282M	GRM5_ENST00000305447.4_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M|GRM5_ENST00000393297.1_Missense_Mutation_p.T282M			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	282					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.T282M(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACCTCTCACCGTCATGCCCTC	0.522000													53	112					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115527188	115527188	+	Silent	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:115527188C>T	ENST00000361048.1	+	5	636	c.309C>T	c.(307-309)gtC>gtT	p.V103V	PLEKHS1_ENST00000369310.3_Silent_p.V97V|PLEKHS1_ENST00000369312.4_Silent_p.V15V	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1									p.V103V(1)|p.V15V(1)									CTGATGAGGTCATGTCCATCA	0.403000													25	73					0	0	1	0	0
CYP21A1P	0	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCAGCGACTGTAGGAGGAGCT	0.657000													3	25					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22120821	22120821	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:22120821G>A	ENST00000389398.5	+	7	598	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	168						extracellular region		p.G168R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTCATCAAAGGGGCCAGAGT	0.512000													9	16					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72858424	72858424	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:72858424C>A	ENST00000339594.4	-	17	4218	c.3880G>T	c.(3880-3882)Gtc>Ttc	p.V1294F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1294					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.V1294I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGGGATGACGCTGTGCTTG	0.562000													5	219					0.000602214	0.00069631	1	1	0
LRRC8E	80131	broad.mit.edu	37	19	7964266	7964266	+	Silent	SNP	A	A	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:7964266A>C	ENST00000306708.6	+	3	960	c.859A>C	c.(859-861)Agg>Cgg	p.R287R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	287						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGTGGCCTGTAGGGTGGAGAC	0.542000													3	93					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33469152	33469152	+	Missense_Mutation	SNP	C	C	T	rs142822518	by1000genomes	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:33469152C>T	ENST00000265371.4	-	18	3149	c.2624G>A	c.(2623-2625)tGt>tAt	p.C875Y	NRP1_ENST00000374875.1_Missense_Mutation_p.C687Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y|NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y			O14786	NRP1_HUMAN	neuropilin 1	875					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CACGACCCCACAGACAGCCCC	0.517000													6	335					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763166	74763166	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:74763166G>A	ENST00000264094.3	-	7	1276	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V|LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	402	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A402V(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCGGACCCCGGCATCCTGGCT	0.552000													5	162					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	93					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995013	144995013	+	Silent	SNP	G	G	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:144995013G>T	ENST00000322810.4	-	32	9556	c.9387C>A	c.(9385-9387)atC>atA	p.I3129I	PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000345136.3_Silent_p.I2992I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000357649.2_Silent_p.I2996I|PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000398774.2_Silent_p.I2960I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3129	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.I3019I(1)|p.I3129I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGCGGTCGATGACCCTGC	0.672000													3	32					0.115264	0.123616	1	1	0
NMT1	4836	broad.mit.edu	37	17	43138780	43138780	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:43138780A>T	ENST00000592782.1	+	2	214	c.83A>T	c.(82-84)gAg>gTg	p.E28V	NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	28					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	p.E28V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AACGGCCATGAGCACTGCAGC	0.602000													3	36					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65559013	65559013	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:65559013C>T	ENST00000261888.6	-	3	851	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	136	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity	p.A136T(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAAAATTTGGCGTTGGCTGGG	0.458000													4	86					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606429	55606429	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:55606429C>A	ENST00000378396.1	+	1	202	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTCAACCACCTCTCCTTTGT	0.433000													77	475					3.1711e-36	3.78486e-36	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	125					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37830251	37830251	+	Silent	SNP	G	G	A	rs147768703	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:37830251G>A	ENST00000300658.4	-	5	644	c.552C>T	c.(550-552)tgC>tgT	p.C184C	PGAP3_ENST00000378011.4_Silent_p.C133C|PGAP3_ENST00000429199.2_Silent_p.C163C|PGAP3_ENST00000579146.1_Intron	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	184					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	p.C184C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCACCTGACGCAGCACAGGT	0.587000													20	36					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41384239	41384239	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:41384239T>G	ENST00000361937.3	-	5	947	c.523A>C	c.(523-525)Agt>Cgt	p.S175R	INO80_ENST00000401393.3_Missense_Mutation_p.S175R			Q9ULG1	INO80_HUMAN	INO80 complex subunit	175	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	p.S175R(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGTCTTTACTATACTTATTT	0.373000													57	184					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170216165	170216165	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr5:170216165A>G	ENST00000518525.1	+	4	550	c.86A>G	c.(85-87)gAg>gGg	p.E29G	GABRP_ENST00000519385.1_Missense_Mutation_p.E29G|GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	29						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCAACGTCGAGGTCGGCAGA	0.473000													3	165					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850735	3850735	+	Silent	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:3850735C>T	ENST00000380274.1	+	1	1116	c.690C>T	c.(688-690)gcC>gcT	p.A230A	FAM50B_ENST00000380272.3_Silent_p.A230A			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus		p.A230A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGCGCTCCGCCGGCGTGGAGC	0.652000													3	66					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77448986	77448986	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:77448986C>A	ENST00000451710.3	-	6	834	c.597G>T	c.(595-597)ttG>ttT	p.L199F	TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000360774.1_Missense_Mutation_p.L199F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	199					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGATTTTTCTCAAGGAATGAG	0.403000													4	190					0.184627	0.192428	1	1	0
SLC1A6	6511	broad.mit.edu	37	19	15067354	15067354	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:15067354C>T	ENST00000430939.2	-	6	1040	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R368Q			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	368					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R368Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGGGGTTCCGGTGAGTGAC	0.607000													3	59					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209212747	209212747	+	Splice_Site	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:209212747G>A	ENST00000264380.4	+	35	5532	c.5374G>A	c.(5374-5376)Gat>Aat	p.D1792N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1792	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.D1792N(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGAGCCTCAAGGTGTGTTAAA	0.408000													5	172					0	0	1	0	0
FEN1	2237	broad.mit.edu	37	11	61563030	61563030	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:61563030G>A	ENST00000305885.2	+	2	610	c.197G>A	c.(196-198)gGc>gAc	p.G66D	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	66	N-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CACCTGATGGGCATGTTCTAC	0.542000								Editing and processing nucleases					4	118					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275542	5275542	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:5275542C>T	ENST00000380259.2	-	7	1535	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	HBG2_ENST00000336906.4_Missense_Mutation_p.V99M|HBG2_ENST00000380252.1_Missense_Mutation_p.V89M					hemoglobin, gamma G									p.V99M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGATCCACATGCAGCTTG	0.498000													46	276					0	0	1	0	0
HCG22	0	broad.mit.edu	37	6	31023076	31023078	+	RNA	DEL	GAG	GAG	-	rs28359768		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:31023076_31023078delGAG	ENST00000426185.1	+	0	310					NR_003948.2																						aaaaaaaaaaGAGAGAGAGAGAG	0.478													5	4	---	---	---	---					
NKX3-1	4824	broad.mit.edu	37	8	23539135	23539135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:23539135delA	ENST00000380871.4	-	2	341	c.304delT	c.(304-306)tatfs	p.Y102fs	NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	102					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAACAGATAAGACCCCAAG	0.527													55	178	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209153	28209154	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:28209153_28209154insA	ENST00000344423.5	-	7	1222_1223	c.1091_1092insT	c.(1090-1092)ctgfs	p.L364fs	ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	364					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAGAGCAGACAGAGGCAGGCC	0.663													13	257	---	---	---	---					
TCTN2	79867	broad.mit.edu	37	12	124171487	124171488	+	Frame_Shift_Ins	INS	-	-	ACGAC			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:124171487_124171488insACGAC	ENST00000303372.5	+	6	797_798	c.669_670insACGAC	c.(670-672)acgfs	p.T224fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.T223fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	224					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTGGGACGACGACACGTGG	0.525													7	798	---	---	---	---					
