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
DUSP18	150290	broad.mit.edu	37	22	31059547	31059547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:31059547C>T	ENST00000334679.3	-	2	949	c.444G>A	c.(442-444)tgG>tgA	p.W148*	DUSP18_ENST00000407308.1_Nonsense_Mutation_p.W148*|DUSP18_ENST00000404885.1_Nonsense_Mutation_p.W148*|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Missense_Mutation_p.G112R	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	148	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TGAGCTGCTCCCAAAAGCCGC	0.552000													5	32					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818679	17818679	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:17818679C>T	ENST00000545871.1	-	3	1912	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	RAI2_ENST00000451717.1_Silent_p.G484G|RAI2_ENST00000415486.3_Silent_p.G434G|RAI2_ENST00000360011.1_Silent_p.G484G|RAI2_ENST00000331511.1_Silent_p.G484G	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	484					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGGACTCTTCCCCTTGGCTGT	0.478000													18	162					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892297	130892297	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:130892297C>G	ENST00000261655.4	-	16	3062	c.2899G>C	c.(2899-2901)Gaa>Caa	p.E967Q		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	967	SH3 3.					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)		GGCGAGCTTTCTCTGGGGTCG	0.557000													15	233					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268203	22268203	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:22268203C>T	ENST00000263026.5	+	7	1227	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	251	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATGACAACATCCGCCTGACGC	0.607000													4	53					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274355	51274355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:51274355G>A	ENST00000270590.4	+	1	635	c.498G>A	c.(496-498)tgG>tgA	p.W166*		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	166						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGGGGTGTGGCTCCTGGCCG	0.592000													4	52					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206327536	206327536	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:206327536C>T	ENST00000361052.3	+	6	858	c.740C>T	c.(739-741)tCt>tTt	p.S247F	CTSE_ENST00000432969.2_Missense_Mutation_p.S167F|CTSE_ENST00000358184.2_Missense_Mutation_p.S242F|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.S242F			P14091	CATE_HUMAN	cathepsin E	247					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCCATTTCTCTGGGAGCCTG	0.512000													9	102					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419603	10419603	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:10419603C>T	ENST00000226207.5	-	4	355	c.261G>A	c.(259-261)aaG>aaA	p.K87K	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	87	Myosin head-like.					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						TGTCCTCGATCTTGTCATATT	0.473000													6	109					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705338	101705338	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:101705338C>T	ENST00000305352.6	+	2	1173	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	266					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCGTCTTCATCGCCTGCTGGG	0.577000													12	140					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708830	203708830	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:203708830C>T	ENST00000357681.5	+	21	4589	c.3466C>T	c.(3466-3468)Cct>Tct	p.P1156S	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1192					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAGGAAAATCCTGACAAGGC	0.498000													3	32					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15487610	15487610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:15487610C>T	ENST00000341776.2	+	6	987	c.743C>T	c.(742-744)cCc>cTc	p.P248L	JARID2_ENST00000397311.3_Missense_Mutation_p.P76L|JARID2_ENST00000541660.1_Missense_Mutation_p.P210L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	248					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGGCCACTCCCGCAAAGGAG	0.562000													5	48					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042803	5042803	+	Silent	SNP	T	T	C			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:5042803T>C	ENST00000574788.1	+	22	3562	c.1332T>C	c.(1330-1332)ggT>ggC	p.G444G	USP6_ENST00000304328.5_Silent_p.G127G|USP6_ENST00000250066.6_Silent_p.G444G|USP6_ENST00000332776.4_Silent_p.G444G			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	444					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACCTCAGGGTTCCTGGAGAT	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	49					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018434	161018434	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:161018434C>T	ENST00000368013.3	-	12	2697	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G616R|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	793	Glu-rich.				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)			TCTCTGACTCCCTCAGCCTCT	0.527000													10	115					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554952	106554952	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:106554952C>T	ENST00000369096.4	+	7	2303	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	PRDM1_ENST00000369089.3_Missense_Mutation_p.S556F|PRDM1_ENST00000369091.2_Missense_Mutation_p.S654F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	690					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CACAAGTGCTCCCAGTGCCAC	0.587000			"""D, N, Mis, F, S"""		DLBCL								12	170					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495964	6495964	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:6495964G>A	ENST00000264071.2	-	4	917	c.546C>T	c.(544-546)ccC>ccT	p.P182P	TUBB4A_ENST00000540257.1_Silent_p.P182P			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	182					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TGGCGTTGTAGGGCTCCACCA	0.577000													8	98					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107464510	107464510	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:107464510A>G	ENST00000334504.7	-	4	472	c.239T>C	c.(238-240)tTc>tCc	p.F80S	COL4A6_ENST00000372216.4_Missense_Mutation_p.F81S|COL4A6_ENST00000538570.1_Missense_Mutation_p.F80S|COL4A6_ENST00000545689.1_Missense_Mutation_p.F80S|COL4A6_ENST00000394872.2_Missense_Mutation_p.F80S	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	81	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AAGGCCTGGGAAACCCCTTTC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				5	41					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591520	46591520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:46591520C>T	ENST00000398637.5	-	16	2039	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	SLC38A1_ENST00000439706.1_Missense_Mutation_p.G449R|SLC38A1_ENST00000546893.1_Missense_Mutation_p.G449R|SLC38A1_ENST00000549049.1_Missense_Mutation_p.G449R|SLC38A1_ENST00000552197.1_Missense_Mutation_p.G449R	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	449					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTGAGTTCCTTTATCTCCA	0.323000													4	47					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835297	38835297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:38835297C>T	ENST00000449082.2	-	1	204	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	69					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTGGGAGCTCACCATAGAAC	0.552000													7	88					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022163	14022163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:14022163C>T	ENST00000382080.1	-	5	1188	c.473G>A	c.(472-474)aGt>aAt	p.S158N	SGCZ_ENST00000421524.2_Missense_Mutation_p.S111N|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	145					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATCTTCACTGGCTCTCAC	0.423000													4	33					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117684	117684	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:117684G>A	ENST00000382500.2	-	1	733	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGCCAGGCGGGGAACTTGCGG	0.637000													13	247					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172007473	172007473	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:172007473C>T	ENST00000358155.4	+	7	1040	c.864C>T	c.(862-864)caC>caT	p.H288H	DNM3_ENST00000367731.1_Silent_p.H288H|DNM3_ENST00000355305.5_Silent_p.H288H|DNM3_ENST00000520906.1_Silent_p.H288H|DNM3_ENST00000367733.2_Silent_p.H288H	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	288					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTACCAACCACATTCGGGATA	0.378000													3	38					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68047686	68047686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:68047686C>T	ENST00000329153.5	+	23	3347	c.3215C>T	c.(3214-3216)gCc>gTc	p.A1072V	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1072	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGGAACAAGCCATGAAGGAG	0.512000													5	42					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442567	138442567	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:138442567C>T	ENST00000344876.4	-	4	3410	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I	PCDH18_ENST00000507846.1_Missense_Mutation_p.M787I|PCDH18_ENST00000412923.2_Missense_Mutation_p.M1007I|PCDH18_ENST00000511115.1_Missense_Mutation_p.M188I|PCDH18_ENST00000510305.1_Missense_Mutation_p.M219I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1008	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACACACTGCTCATTTCCGAGA	0.527000													6	47					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36041766	36041766	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:36041766C>T	ENST00000258840.6	-	38	6381	c.5991_splice	c.e38+1	p.E1997_splice	RALGAPA1_ENST00000382366.3_Splice_Site_p.E1963_splice|RALGAPA1_ENST00000307138.6_Splice_Site_p.E1950_splice|RALGAPA1_ENST00000389698.3_Splice_Site_p.E1950_splice			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1950	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGTTCTTACCTCTGGTTTTT	0.333000													5	35					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73726977	73726977	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:73726977G>A	ENST00000200181.3	+	9	1211	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	ITGB4_ENST00000579662.1_Missense_Mutation_p.V342I|ITGB4_ENST00000450894.3_Missense_Mutation_p.V342I|ITGB4_ENST00000449880.2_Missense_Mutation_p.V342I|ITGB4_ENST00000339591.3_Missense_Mutation_p.V342I|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	342					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTATTTCCCTGTCTCCTCACT	0.562000													8	115					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258175	155258175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:155258175C>T	ENST00000368358.3	+	8	2254	c.2246C>T	c.(2245-2247)cCa>cTa	p.P749L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	749	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAAACCTCCAAGGACAGCC	0.632000													7	55					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579531	57579531	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:57579531C>T	ENST00000243077.3	+	41	7147	c.6681C>T	c.(6679-6681)ttC>ttT	p.F2227F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2227					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCAGCCCTTCGAGGACCCTG	0.607000													5	35					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983588	128983588	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:128983588G>A	ENST00000274487.4	+	12	2130	c.1985_splice	c.e12+1	p.G662_splice	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	662	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAATGTCCTGGGTAAACTCAA	0.498000													5	80					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142440	217142440	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:217142440G>T	ENST00000273067.4	-	3	2586	c.820C>A	c.(820-822)Cag>Aag	p.Q274K		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	274						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TAGCAGATCTGGAAGAGAAGG	0.567000													8	93					1.06961e-07	1.11215e-07	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102105228	102105228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:102105228C>T	ENST00000376180.3	+	1	263	c.44C>T	c.(43-45)tCc>tTc	p.S15F	ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	15					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGCGTCCTCCCTTCTCTTT	0.557000													7	70					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828357	1828357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:1828357G>A	ENST00000170168.4	-	2	525	c.431C>T	c.(430-432)gCc>gTc	p.A144V	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	144						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGGGAAGGCATCCTCGTC	0.746000													3	24					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868138	57868138	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:57868138C>T	ENST00000391705.3	+	4	1185	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	ZNF304_ENST00000282286.5_Missense_Mutation_p.H301Y|ZNF304_ENST00000598744.1_Missense_Mutation_p.H259Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.H348Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCAGAAATTTCACACTGGAAA	0.428000													3	39					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827773	1827773	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:1827773G>A	ENST00000566339.1	-	6	1026	c.696C>T	c.(694-696)acC>acT	p.T232T	SPSB3_ENST00000301717.4_Silent_p.T232T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	232	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCTTGAAAAAGGTGAGTGTGC	0.627000													4	29					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596953	142596953	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:142596953C>T	ENST00000370503.2	-	2	200	c.117G>A	c.(115-117)caG>caA	p.Q39Q	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	39										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCAAACTCTGTTCGGGGG	0.373000													3	33					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890501	22890501	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:22890501G>A	ENST00000543184.1	-	5	2380	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	PRAME_ENST00000405655.3_Silent_p.F506F|PRAME_ENST00000402697.1_Silent_p.F506F|PRAME_ENST00000398741.1_Silent_p.F506F|PRAME_ENST00000539862.1_Silent_p.F490F|PRAME_ENST00000398743.2_Silent_p.F506F|PRAME_ENST00000424204.2_Silent_p.F490F	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	506	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGTTAGGCATGAAACAGGGGC	0.532000													11	133					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291979	22291979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:22291979C>T	ENST00000323684.1	+	1	915	c.871C>T	c.(871-873)Cca>Tca	p.P291S		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	291	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCCATCATCACCAGTAAACCA	0.473000													6	38					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139653219	139653219	+	Missense_Mutation	SNP	G	G	C	rs150139510		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:139653219G>C	ENST00000263552.6	+	10	1044	c.506G>C	c.(505-507)cGc>cCc	p.R169P	TBXAS1_ENST00000425687.1_Missense_Mutation_p.R101P|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R169P|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R169P|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R168P|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R168P|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R214P|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R215P|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R168P	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	168					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CATTTAAAACGCTATGCGGAA	0.468000													4	53					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59024580	59024580	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:59024580G>A	ENST00000589222.1	+	14	1156	c.1087_splice	c.e14-1	p.G363_splice	BCAS3_ENST00000588462.1_Splice_Site_p.G363_splice|BCAS3_ENST00000407086.3_Splice_Site_p.G363_splice|BCAS3_ENST00000408905.3_Splice_Site_p.G363_splice|BCAS3_ENST00000390652.5_Splice_Site_p.G363_splice|BCAS3_ENST00000585744.1_Splice_Site_p.G134_splice|BCAS3_ENST00000588874.1_Splice_Site_p.G134_splice			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	363						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTCTTCCAGGAATGCTTCTA	0.358000													6	70					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50172187	50172187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:50172187C>T	ENST00000246784.3	+	3	439	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	BCL2L12_ENST00000441864.2_Silent_p.P193P|BCL2L12_ENST00000246785.3_Silent_p.P194P			Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	0					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		AATCTCCGCCCAGCCCAGGTG	0.572000													5	49					0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825608	52825608	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:52825608C>T	ENST00000375511.3	-	2	891	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	47										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					GTTGAATATTCTGATGTTTTC	0.398000													5	21					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18745764	18745764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:18745764C>T	ENST00000513874.1	-	2	159	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	7			R -> W (found in a renal cell carcinoma sample; somatic mutation).							NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAGCATCTGCCGGCTGTGAAT	0.582000													4	64					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490487	173490487	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:173490487C>T	ENST00000367714.3	-	22	3114	c.2692G>A	c.(2692-2694)Ggt>Agt	p.G898S	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	898					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGCATTTCACCTCCTTTACAA	0.318000													3	23					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711764	140711764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:140711764C>T	ENST00000517417.1	+	1	1513	c.1513C>T	c.(1513-1515)Ctc>Ttc	p.L505F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L505F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGCCTACCTCTCCATCAA	0.547000													4	109					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646880	23646880	+	Silent	SNP	T	T	C			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:23646880T>C	ENST00000261584.4	-	4	1139	c.987A>G	c.(985-987)ctA>ctG	p.L329L		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	329					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGAGTTCATTTAGAGAACATG	0.338000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	58					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237739	29237739	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:29237739C>T	ENST00000382535.3	+	2	1623	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	FOXG1_ENST00000313071.4_Silent_p.F418F			P55316	FOXG1_HUMAN	forkhead box G1	418					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTACTTTTTCCCCCACGTCC	0.692000													4	28					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736405	26736405	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:26736405G>A	ENST00000529632.2	+	10	2215	c.2019G>A	c.(2017-2019)ctG>ctA	p.L673L	SEZ6L_ENST00000343706.4_Silent_p.L673L|SEZ6L_ENST00000403121.1_Silent_p.L446L|SEZ6L_ENST00000248933.6_Silent_p.L673L|SEZ6L_ENST00000404234.3_Silent_p.L673L|SEZ6L_ENST00000360929.3_Silent_p.L673L|SEZ6L_ENST00000402979.1_Silent_p.L446L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	673	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCAAGCCTGAATCTGAGCA	0.468000													8	114					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309939	89309939	+	RNA	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:89309939G>A	ENST00000493819.1	-	0	73																											AGCTGAGCGGGGACCCTCATG	0.572000													7	88					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989632	15989632	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:15989632C>T	ENST00000221700.5	-	13	1607	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	CYP4F2_ENST00000592328.1_Silent_p.L504L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	504					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGCGCAGGACCAGCTCCGGCT	0.647000													4	35					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341578	55341578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:55341578G>A	ENST00000391728.4	+	9	1216	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E378K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E395K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E378K|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E300K	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGACCCTGAGGAGGTGACATA	0.512000													10	190					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66041910	66041910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:66041910C>T	ENST00000537025.2	+	10	1990	c.1370C>T	c.(1369-1371)aCt>aTt	p.T457I	KPNA2_ENST00000330459.3_Missense_Mutation_p.T457I|KPNA2_ENST00000582898.1_3'UTR			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	457					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTAGGTGAAACTGAGAAACTT	0.313000													4	39					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825873	52825873	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:52825873G>A	ENST00000273283.2	+	22	2706	c.2682G>A	c.(2680-2682)ggG>ggA	p.G894G	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.G752G|ITIH1_ENST00000537050.1_Silent_p.G606G|ITIH1_ENST00000405128.3_Silent_p.G260G	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	894	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAACAATGGGGCTGGACTCA	0.592000													3	27					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94411887	94411887	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:94411887C>T	ENST00000282020.4	+	12	2214	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	GRID2_ENST00000510992.1_Silent_p.L557L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	652					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGGCAAACCTCGCTGCTTTCC	0.453000													3	47					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153732	4153732	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:4153732C>T	ENST00000404826.2	+	25	3788	c.3649C>T	c.(3649-3651)Cgc>Tgc	p.R1217C	SDK1_ENST00000389531.3_Missense_Mutation_p.R1217C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1217	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1217C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAAGTACTGGCGCTCAGACCT	0.577000													4	52					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699178	17699178	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:17699178C>T	ENST00000399080.2	-	1	528	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	169										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTAATTCCATGTATATCG	0.408000													5	39					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169500058	169500058	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:169500058C>A	ENST00000367796.3	-	15	5390	c.5189G>T	c.(5188-5190)tGt>tTt	p.C1730F	F5_ENST00000367797.3_Missense_Mutation_p.C1725F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1725	F5/8 type A 3.|Plastocyanin-like 5.		Y -> C (in FA5D; Seoul 2).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCAAGCCCGACAGGCAGAGCC	0.473000													8	51					0.27861	0.27861	1	1	0
COMP	1311	broad.mit.edu	37	19	18895135	18895135	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:18895135C>T	ENST00000542601.2	-	16	2243	c.1854G>A	c.(1852-1854)cgG>cgA	p.R618R	COMP_ENST00000222271.2_Silent_p.R651R|COMP_ENST00000425807.1_Silent_p.R598R			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	651	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACAGAGCGTTCCGCAGCTGTT	0.612000													5	42					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16720904	16720904	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:16720904G>A	ENST00000443824.1	-	2	865	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CTPS2_ENST00000380241.3_Missense_Mutation_p.P41L|CTPS2_ENST00000359276.4_Missense_Mutation_p.P41L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	41					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GTTAATATAGGGGTCGATTTT	0.448000													6	48					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51143466	51143466	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:51143466C>T	ENST00000414786.2	+	16	2156	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	SHANK3_ENST00000262795.3_Silent_p.L673L|SHANK3_ENST00000445220.2_Silent_p.L658L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	673										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCAACCGCCTCGTCATGAAGG	0.617000													4	49					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925773	55925773	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:55925773C>T	ENST00000244728.5	-	26	2665	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	COL21A1_ENST00000370808.2_Silent_p.V156V|COL21A1_ENST00000370819.1_Silent_p.V753V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Silent_p.V756V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	756	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)			TCAAGCCATCCACCCCAGATT	0.507000													5	25					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31475730	31475730	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:31475730C>T	ENST00000457010.2	+	4	2087	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	ARMC5_ENST00000563544.1_Silent_p.S462S|ARMC5_ENST00000412665.2_Silent_p.S106S|ARMC5_ENST00000408912.3_Silent_p.S557S|ARMC5_ENST00000538189.1_Silent_p.S494S|ARMC5_ENST00000268314.4_Silent_p.S462S	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	462							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCTGATCTCCGAGGGCTATG	0.637000													3	22					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843022	7843022	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:7843022G>A	ENST00000329913.3	-	2	594	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	183					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACATCCAGCAGGTTGAAGTGA	0.498000													4	42					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102662226	102662226	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:102662226C>T	ENST00000315274.6	-	8	1101	c.1033_splice	c.e8-1	p.G345_splice	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	345	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTACTTATTCCCTGCCAATCA	0.433000													5	92					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72046280	72046280	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:72046280C>T	ENST00000265381.4	-	13	2699	c.2477G>A	c.(2476-2478)aGg>aAg	p.R826K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	826					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGTCAGCAGCCTGTACATCGC	0.592000													7	109					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2438259	2438259	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:2438259T>C	ENST00000325327.3	-	4	648	c.586A>G	c.(586-588)Aag>Gag	p.K196E	LMNB2_ENST00000582871.1_Missense_Mutation_p.K176E			Q03252	LMNB2_HUMAN	lamin B2	176	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTGCTTTTTGGCCACT	0.607000													4	46					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724777	158724777	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:158724777C>T	ENST00000368144.2	+	1	268	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATTCTTTATTCCCTTGCTTCT	0.463000													5	75					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080296	30080296	+	Missense_Mutation	SNP	G	G	A	rs145117238		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:30080296G>A	ENST00000376734.3	-	2	412	c.287C>T	c.(286-288)cCg>cTg	p.P96L	TRIM31_ENST00000540829.1_Missense_Mutation_p.P96L|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	96						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CTGGTGCCTCGGGCATGTAGC	0.493000													3	44					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903418	176903418	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:176903418C>T	ENST00000367654.2	-	16	2578	c.2565G>A	c.(2563-2565)gcG>gcA	p.A855A	ASTN1_ENST00000361833.2_Silent_p.A847A|ASTN1_ENST00000367657.3_Silent_p.A847A|ASTN1_ENST00000424564.2_Silent_p.A847A			O14525	ASTN1_HUMAN	astrotactin 1	855					cell migration|neuron cell-cell adhesion	integral to membrane		p.A847A(1)		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						GGTCCAACAGCGCCACAAAAT	0.542000													3	31					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18745763	18745763	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:18745763C>T	ENST00000513874.1	-	2	160	c.21G>A	c.(19-21)cgG>cgA	p.R7R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	7			R -> W (found in a renal cell carcinoma sample; somatic mutation).							NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCAGCATCTGCCGGCTGTGAA	0.582000													6	62					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098790	177098790	+	Silent	SNP	G	G	A	rs145267415		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:177098790G>A	ENST00000393643.2	+	29	4014	c.3762G>A	c.(3760-3762)acG>acA	p.T1254T	WDR17_ENST00000508596.1_Silent_p.T1239T|WDR17_ENST00000280190.4_Silent_p.T1278T|WDR17_ENST00000507824.2_Silent_p.T1253T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1278										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTGTCTTACGGGATTAAAAA	0.318000													4	20					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474515	99474515	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:99474515G>A	ENST00000316368.2	-	1	165	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATGCAGATGAGGAGAATGGTG	0.498000													4	22					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533843	179533843	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:179533843G>A	ENST00000367615.4	-	2	428	c.360C>T	c.(358-360)tcC>tcT	p.S120S	NPHS2_ENST00000367616.4_Silent_p.S120S	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	120					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGAACCAGATGGAAAAAGGGA	0.458000													3	23					0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209010522	209010522	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:209010522G>A	ENST00000260988.4	-	2	275	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	76	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGCAGGAGCGGATGGAGTCGC	0.507000													5	64					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3641734	3641734	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:3641734C>T	ENST00000335312.3	-	15	1844	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E586K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E586K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E586K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	586					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCACAATCTCCACGCTGCAC	0.682000													8	45					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087927	86087927	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:86087927C>T	ENST00000330753.4	+	2	836	c.69C>T	c.(67-69)tcC>tcT	p.S23S	FLRT2_ENST00000554746.1_Silent_p.S23S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	23					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTATCATTTCCCTGGGGCTCT	0.502000													3	48					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603612	138603612	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:138603612G>A	ENST00000440172.1	-	2	808	c.760C>T	c.(760-762)Cct>Tct	p.P254S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P204S|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P254S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	254						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCATCAGTAGGATAAAGCACC	0.502000			O	BRAF	pilocytic astrocytoma								3	45					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586912	28586912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr18:28586912G>A	ENST00000434452.1	-	12	2003	c.1849C>T	c.(1849-1851)Cca>Tca	p.P617S	DSC3_ENST00000360428.4_Missense_Mutation_p.P617S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	617	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGATTTCTGGAGAAGTATTG	0.353000													4	27					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3494394	3494394	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:3494394C>T	ENST00000174621.6	-	3	751	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SHPK_ENST00000572705.1_Silent_p.K156K|TRPV1_ENST00000425167.2_Silent_p.K156K|TRPV1_ENST00000571088.1_Silent_p.K156K|TRPV1_ENST00000399759.3_Silent_p.K156K|TRPV1_ENST00000576351.1_Silent_p.K156K|TRPV1_ENST00000399756.4_Silent_p.K156K|TRPV1_ENST00000310522.5_Silent_p.K156K			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	156					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCAGACAGGTCTTCCCTGTCT	0.632000													3	19					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151820052	151820052	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:151820052T>A	ENST00000370306.2	+	8	985	c.965T>A	c.(964-966)aTt>aAt	p.I322N		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	322						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCAACATTTCCTGTATC	0.438000													10	41					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309940	89309940	+	RNA	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:89309940G>A	ENST00000493819.1	-	0	72																											GCTGAGCGGGGACCCTCATGT	0.577000													7	86					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	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				3	29					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57901461	57901461	+	Translation_Start_Site	SNP	C	C	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:57901461C>A	ENST00000366197.5	+	0	244				ZNF548_ENST00000597400.1_De_novo_Start_InFrame|ZNF548_ENST00000598895.1_De_novo_Start_InFrame|AC003002.6_ENST00000596400.1_De_novo_Start_InFrame|AC003002.6_ENST00000600421.1_3'UTR|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_De_novo_Start_InFrame	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGCGGAGGCCTTGCTGATGA	0.677000													8	46					1.12685e-05	1.16505e-05	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111490767	111490767	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:111490767C>T	ENST00000369763.4	-	4	2514	c.2124G>A	c.(2122-2124)ttG>ttA	p.L708L	LRIF1_ENST00000485275.2_Silent_p.L172L|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Silent_p.L172L	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATTTGAATTCAAAGTGCCTT	0.378000													8	87					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223988514	223988514	+	Splice_Site	SNP	T	T	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:223988514T>A	ENST00000391878.2	-	11	1607		c.e11-2		TP53BP2_ENST00000343537.7_Splice_Site|TP53BP2_ENST00000498843.1_Splice_Site	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTTAGAGCCTAAAATACAGA	0.373000													3	24					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736328	140736328	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:140736328G>A	ENST00000571252.1	+	1	1561	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCCTTCGACTATGAGCA	0.527000													4	94					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	33					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144698813	144698813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:144698813G>A	ENST00000425753.2	-	2	173	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	TSTA3_ENST00000529064.1_Nonsense_Mutation_p.Q24*	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	24					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACCACCTTCTGGATGGCTTTG	0.557000													12	103					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891617	30891617	+	Silent	SNP	G	G	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:30891617G>T	ENST00000392772.2	-	4	302	c.25C>A	c.(25-27)Cgg>Agg	p.R9R	SEC14L4_ENST00000381982.3_Silent_p.R63R|SEC14L4_ENST00000540456.1_Silent_p.R48R|SEC14L4_ENST00000255858.7_Silent_p.R63R			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	63						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TGTTGCTTCCGGAACTCCATG	0.592000													5	89					0.014758	0.0148391	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23326306	23326306	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:23326306G>A	ENST00000298032.5	+	19	2601	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G	ARMC3_ENST00000409983.3_Silent_p.G832G|ARMC3_ENST00000376528.4_Silent_p.G576G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	839							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGTGATTGGGGGCCTCCCCG	0.502000													5	54					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240046	27240046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:27240046G>A	ENST00000577226.1	-	9	1889	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S	PHF12_ENST00000332830.4_Missense_Mutation_p.P515S|PHF12_ENST00000268756.3_Missense_Mutation_p.P515S|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	515	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTAGGGCTGGGGACTGGTGG	0.552000													4	60					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866044	208866044	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:208866044G>A	ENST00000457206.1	-	2	747	c.320C>T	c.(319-321)tCc>tTc	p.S107F	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S107F|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S107F			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	107					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCAGGAAAGATTATC	0.458000													6	66					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755186	72755186	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:72755186G>A	ENST00000377182.4	+	8	1737	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	374	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCGGGCTGGAGACCACACTAC	0.453000													13	73					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13216333	13216333	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:13216333G>A	ENST00000592062.1	-	16	2241	c.1671C>T	c.(1669-1671)gcC>gcT	p.A557A	TRMT1_ENST00000357720.4_Silent_p.A557A|TRMT1_ENST00000221504.8_Silent_p.A528A|TRMT1_ENST00000437766.1_Silent_p.A557A			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	557							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACCCCAGTTGGCCTCCGGGT	0.662000													6	144					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644282	64644282	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:64644282A>T	ENST00000498707.1	-	4	1207	c.865T>A	c.(865-867)Tta>Ata	p.L289I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L289I|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.L289I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	289					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGATAGGATAAAAAACGTTTT	0.398000													7	115					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15230079	15230079	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:15230079G>A	ENST00000263383.3	-	9	1088	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.L210F	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	317						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ATCCCTCCAAGGAAGCAGGGA	0.667000													6	37					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60987794	60987794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:60987794G>A	ENST00000252998.1	-	13	1918	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GCCTCCGCCTGGGAGCTCAGG	0.701000													7	56					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25460742	25460742	+	RNA	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr15:25460742C>T	ENST00000424208.1	+	0	2739				SNORD115-25_ENST00000362619.1_RNA	NR_003305.1																						ACTTAAAAATCATGCCCAATA	0.488000													14	207					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169500056	169500056	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:169500056G>A	ENST00000367796.3	-	15	5392	c.5191C>T	c.(5191-5193)Cgg>Tgg	p.R1731W	F5_ENST00000367797.3_Missense_Mutation_p.R1726W			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1726	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCCCAAGCCCGACAGGCAGAG	0.473000													7	47					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85661061	85661061	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr15:85661061G>A	ENST00000310298.4	+	18	1977	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	PDE8A_ENST00000557957.1_Silent_p.E503E|PDE8A_ENST00000394553.1_Silent_p.E575E|PDE8A_ENST00000339708.5_Silent_p.E529E			O60658	PDE8A_HUMAN	phosphodiesterase 8A	575	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TCTCCAAGGAGAGGATAAAGG	0.448000													8	91					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46527683	46527683	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:46527683C>T	ENST00000262741.5	-	6	1371	c.682G>A	c.(682-684)Gag>Aag	p.E228K	PIK3R3_ENST00000372006.1_Missense_Mutation_p.E228K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E228K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E228K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E228K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E274K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E192K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGACACTGCTCTTCAAATATT	0.358000													8	67					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326307	23326307	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:23326307G>A	ENST00000298032.5	+	19	2602	c.2518G>A	c.(2518-2520)Ggc>Agc	p.G840S	ARMC3_ENST00000409983.3_Missense_Mutation_p.G833S|ARMC3_ENST00000376528.4_Missense_Mutation_p.G577S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	840							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGATTGGGGGCCTCCCCGC	0.498000													5	55					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774042	35774042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:35774042G>A	ENST00000440995.2	+	28	3982	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1333K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1333					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTAACAACAGAGGAAATTGC	0.388000													4	21					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237670	126237670	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:126237670C>T	ENST00000394329.3	+	1	117	c.104C>T	c.(103-105)cCg>cTg	p.P35L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	35					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCATTGCTTCCGGGGCAGGCC	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	101					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704665	47704665	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr21:47704665G>A	ENST00000397708.1	-	2	790	c.536C>T	c.(535-537)tCc>tTc	p.S179F	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S179F			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	179					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S179F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATTGGGTGGGAAAATGTAAA	0.428000													4	30					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													5	38					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999570	108999570	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:108999570C>T	ENST00000272452.2	+	4	741	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	139					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGCAAGAAATCCCAAGGACAA	0.398000													5	45					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30530924	30530924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:30530924C>T	ENST00000358365.3	+	16	1575	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	RHOT1_ENST00000581094.1_Missense_Mutation_p.R450C|RHOT1_ENST00000545287.2_Missense_Mutation_p.R450C|RHOT1_ENST00000583994.1_Missense_Mutation_p.R323C|RHOT1_ENST00000394692.2_Missense_Mutation_p.R450C|RHOT1_ENST00000354266.3_Missense_Mutation_p.R429C|RHOT1_ENST00000333942.6_Missense_Mutation_p.R450C	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	450	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GAAGAAAATTCGTGAAGATCA	0.333000													3	25					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316900	203316900	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:203316900G>A	ENST00000354955.4	-	2	962	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	167					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			ATCCGGGTCAGGTTGTTGTGG	0.597000													5	117					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286286	4286286	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:4286286G>A	ENST00000381971.3	-	2	733	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	637	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGTGGGACTCGATGTGCTGCC	0.607000													4	32					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709810	52709810	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:52709810C>T	ENST00000293670.3	-	7	1191	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	377	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity	p.E377K(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGCGCCCTCCAGCTCGGCC	0.632000													7	65					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109792669	109792669	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:109792669C>T	ENST00000356711.2	+	32	4169	c.4043C>T	c.(4042-4044)cCt>cTt	p.P1348L	MYO16_ENST00000357550.2_Missense_Mutation_p.P1348L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1348					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAGATTCCTCCTCGAAAGCCC	0.701000													4	39					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915151	31915151	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:31915151C>T	ENST00000556679.1	+	16	2072	c.2017C>T	c.(2017-2019)Ccc>Tcc	p.P673S	CFB_ENST00000456570.1_Missense_Mutation_p.P673S|CFB_ENST00000425368.2_Missense_Mutation_p.P171S|CFB_ENST00000477310.1_Missense_Mutation_p.P522S			P00751	CFAB_HUMAN	complement factor B	171	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCCGGGCATCCCCATTGGCAC	0.617000													9	113					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766471	57766471	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:57766471G>A	ENST00000371030.2	+	1	397	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	133						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCACGCTGGGCAGCCCAGG	0.682000													6	73					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263247	139263247	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:139263247C>A	ENST00000395297.1	-	6	549	c.379G>T	c.(379-381)Gtg>Ttg	p.V127L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	127										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCCCAGCCACATCCCTCAAC	0.582000										HNSCC(54;0.14)			8	87					0.000442599	0.000449976	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818353	1818353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:1818353C>T	ENST00000250894.4	+	30	3870	c.3713C>T	c.(3712-3714)gCc>gTc	p.A1238V	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A1232V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1238					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CACCGCGATGCCGTGAAGTTC	0.657000													6	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681340	100681340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:100681340C>T	ENST00000306151.4	+	3	6707	c.6643C>T	c.(6643-6645)Cct>Tct	p.P2215S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2215	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCTCAACTCCTAGTGAAGG	0.498000													30	293					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468788	64468788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:64468788C>T	ENST00000358025.3	+	29	4005	c.3775C>T	c.(3775-3777)Caa>Taa	p.Q1259*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1259*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q1259*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1259					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCGCATCTATCAACACCTAAG	0.378000													4	54					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744177	25744177	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:25744177G>A	ENST00000357816.2	-	3	1699	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	AMER2_ENST00000381853.3_Silent_p.S408S|AMER2_ENST00000515384.1_Silent_p.S527S					APC membrane recruitment protein 2																		CTGGCGTGGTGGAGTCCCAGT	0.642000													8	72					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24662999	24662999	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:24662999G>A	ENST00000361548.4	+	4	524	c.294G>A	c.(292-294)acG>acA	p.T98T	GRHL3_ENST00000356046.2_Silent_p.T52T|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000350501.5_Silent_p.T98T|GRHL3_ENST00000236255.4_Silent_p.T103T|GRHL3_ENST00000342072.4_Silent_p.T5T	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	98					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AATATGAGACGGACCTCACTC	0.512000													3	50					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25168015	25168015	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:25168015C>T	ENST00000276440.7	+	13	1329	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	429						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGCAATAGCCCGGAAGATGGG	0.468000													3	26					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27290975	27290975	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:27290975C>T	ENST00000397501.1	+	16	1819	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	PTK2B_ENST00000346049.5_Silent_p.S337S|PTK2B_ENST00000338238.4_Silent_p.S337S|PTK2B_ENST00000517339.1_Silent_p.S337S|PTK2B_ENST00000420218.2_Silent_p.S337S|PTK2B_ENST00000397497.4_Silent_p.S83S|PTK2B_ENST00000544172.1_Silent_p.S337S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	337	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAACCTCATCCCTAGCAGAGG	0.587000													6	63					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57056174	57056174	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:57056174C>T	ENST00000436936.1	+	4	527	c.302C>T	c.(301-303)aCc>aTc	p.T101I	NLRC5_ENST00000262510.6_Missense_Mutation_p.T101I|NLRC5_ENST00000308149.7_Missense_Mutation_p.T101I|NLRC5_ENST00000539144.1_Missense_Mutation_p.T101I			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	101					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCAGGGTTCACCAGCCAGCTG	0.612000													4	16					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100692185	100692185	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:100692185T>G	ENST00000306151.4	+	5	12659	c.12595T>G	c.(12595-12597)Ttc>Gtc	p.F4199V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4199	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTGTGAAGTTCACCGAAGA	0.502000													6	31					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111435132	111435132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:111435132G>A	ENST00000271324.5	+	3	341	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CD53_ENST00000429072.2_Missense_Mutation_p.E77K	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	77					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CTCTATCAAGGAAAACAAGTG	0.517000													7	76					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109792668	109792668	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:109792668C>T	ENST00000356711.2	+	32	4168	c.4042C>T	c.(4042-4044)Cct>Tct	p.P1348S	MYO16_ENST00000357550.2_Missense_Mutation_p.P1348S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1348					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAAGATTCCTCCTCGAAAGCC	0.701000													4	38					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6649172	6649172	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:6649172C>T	ENST00000377674.4	+	11	2125	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	656						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCAGCTCCCCGGCCAGAGA	0.672000													4	59					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44070959	44070959	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:44070959G>A	ENST00000359947.4	+	18	3574	c.3234G>A	c.(3232-3234)atG>atA	p.M1078I	PTPRF_ENST00000438120.1_Missense_Mutation_p.M1069I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.M1069I|PTPRF_ENST00000372414.3_Missense_Mutation_p.M1078I|PTPRF_ENST00000422171.2_Missense_Mutation_p.M426I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1078	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGTGCTGATGAACCGTGGCA	0.617000													7	63					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11614446	11614446	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:11614446C>T	ENST00000335135.4	+	6	1558	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	GATA4_ENST00000528712.1_Missense_Mutation_p.P128S|GATA4_ENST00000532059.1_Missense_Mutation_p.P335S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	334					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CATTCCAGCTCCTTCAGGCAG	0.612000													12	101					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524522	35524522	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:35524522C>T	ENST00000262631.5	+	3	464	c.327C>T	c.(325-327)acC>acT	p.T109T	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Silent_p.T109T	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	109	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCTTCATCACCAATGTCACCT	0.572000													9	131					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101993104	101993104	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:101993104G>A	ENST00000354105.4	-	14	1583	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CWF19L1_ENST00000370379.1_Silent_p.I214I|RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000478047.1_5'UTR	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	499							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACATTAAGGATGGCTTCAC	0.507000													5	66					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785759	151785759	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:151785759A>T	ENST00000356728.6	-	7	1221	c.1067T>A	c.(1066-1068)tTt>tAt	p.F356Y	RORC_ENST00000318247.6_Missense_Mutation_p.F377Y|RORC_ENST00000392697.3_Missense_Mutation_p.F431Y|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	377	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTTCAAAAAAGACCGTGCG	0.557000													19	179					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69965788	69965788	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:69965788C>T	ENST00000359154.2	+	16	1778	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	WWP2_ENST00000356003.2_Silent_p.I559I|WWP2_ENST00000568684.1_Silent_p.I120I|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.I559I|WWP2_ENST00000542271.1_Silent_p.I443I	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	559	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGGGGCATCGCCAGGTGAG	0.607000													6	76					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906143	164906143	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:164906143G>T	ENST00000475390.1	-	2	2919	c.2476C>A	c.(2476-2478)Cag>Aag	p.Q826K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q826K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	826						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGTTAAGCTGGGAGCTGGAC	0.547000										HNSCC(40;0.11)			5	73					1.23904e-05	1.27384e-05	1	1	0
MANBA	4126	broad.mit.edu	37	4	103553284	103553284	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:103553284G>A	ENST00000226578.4	-	17	2669	c.2570C>T	c.(2569-2571)cCt>cTt	p.P857L	MANBA_ENST00000505239.1_Missense_Mutation_p.P800L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	857					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GGGCTCCCAAGGGTAAAATAA	0.423000													7	48					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120942120	120942120	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:120942120A>T	ENST00000286234.5	+	3	497	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	123					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GGATGACGGCACCTTCCCATT	0.413000													4	64					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250914	142250914	+	RNA	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:142250914C>T	ENST00000390360.3	-	0	153																											TGTCTCATATCCTGGGTACAT	0.498000													6	26					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468786	64468786	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:64468786A>T	ENST00000358025.3	+	29	4003	c.3773A>T	c.(3772-3774)tAt>tTt	p.Y1258F	SYNE2_ENST00000554584.1_Missense_Mutation_p.Y1258F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.Y1258F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1258					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATCGCATCTATCAACACCTA	0.378000													4	54					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226929	43226929	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:43226929C>T	ENST00000259750.4	+	11	1253	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P	TTBK1_ENST00000304139.5_Silent_p.P339P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	390						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTTGTCCCCCACCCCGGGG	0.627000													5	60					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12342864	12342864	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:12342864C>T	ENST00000358136.3	+	21	4835	c.4705C>T	c.(4705-4707)Cct>Tct	p.P1569S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P1569S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1569					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TACCTCCTCCCCTTGCCCTGA	0.478000													3	54					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182267	140182267	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:140182267G>A	ENST00000522353.2	+	1	1485	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.V495V	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGCTGGTGGAACGGCGGG	0.677000													10	88					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983587	128983587	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:128983587G>A	ENST00000274487.4	+	12	2129	c.1985_splice	c.e12+1	p.G662_splice	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	662	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAAATGTCCTGGGTAAACTCA	0.502000													5	80					0	0	1	0	0
CCDC115	84317	broad.mit.edu	37	2	131099642	131099642	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:131099642C>T	ENST00000259229.2	-	1	280	c.57G>A	c.(55-57)ggG>ggA	p.G19G	CCDC115_ENST00000409127.1_Intron|CCDC115_ENST00000437688.2_Intron	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	19						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CCTCCAGGTCCCCAAGCAGCT	0.642000													4	75					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8996035	8996035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:8996035G>A	ENST00000344836.4	-	18	2149	c.1951C>T	c.(1951-1953)Ctc>Ttc	p.L651F	USP7_ENST00000381886.4_Missense_Mutation_p.L635F|USP7_ENST00000535863.1_Missense_Mutation_p.L552F	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	651	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTATCACTGAGCTCAATCATC	0.413000													6	73					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032601	110032601	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:110032601G>A	ENST00000369870.3	+	8	1102	c.1087G>A	c.(1087-1089)Ggt>Agt	p.G363S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	363										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCCTGTGGTGGTGATGGGGA	0.632000													6	143					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812062	140812062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:140812062C>T	ENST00000252085.3	+	1	1878	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGCTCCCCGCTCCGCA	0.667000													14	136					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36221458	36221458	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:36221458C>T	ENST00000222270.7	+	25	5217	c.5217C>T	c.(5215-5217)tcC>tcT	p.S1739S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.S1739S	NM_014727.1	NP_055542.1																					GCATTGACTCCCTGGGTACTC	0.612000													17	248					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3115784	3115784	+	Splice_Site	SNP	G	G	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:3115784G>T	ENST00000525643.2	+	2	304		c.e2-1		IL32_ENST00000552936.1_Splice_Site|IL32_ENST00000382213.3_Intron|IL32_ENST00000529550.1_Splice_Site|IL32_ENST00000526464.2_5'UTR|IL32_ENST00000552356.1_Splice_Site|IL32_ENST00000551122.1_5'UTR|IL32_ENST00000552664.1_5'UTR|IL32_ENST00000529699.1_Splice_Site|IL32_ENST00000396890.2_Splice_Site|IL32_ENST00000531965.1_Intron|IL32_ENST00000551513.1_5'UTR|IL32_ENST00000548476.1_5'UTR|IL32_ENST00000530890.1_Splice_Site|IL32_ENST00000548652.1_Splice_Site|IL32_ENST00000533097.2_Splice_Site|IL32_ENST00000444393.3_Splice_Site|IL32_ENST00000528163.2_Splice_Site|IL32_ENST00000440815.3_5'UTR|IL32_ENST00000396887.3_Splice_Site|IL32_ENST00000530538.2_5'UTR|IL32_ENST00000549213.1_Splice_Site|IL32_ENST00000325568.5_Splice_Site|IL32_ENST00000008180.9_Splice_Site|IL32_ENST00000534507.1_Splice_Site			P24001	IL32_HUMAN	interleukin 32						cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTCGCCAGCAGGCCTTGGCTC	0.577000													10	151					1.76689e-08	1.84767e-08	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769537	57769537	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:57769537C>T	ENST00000371030.2	+	1	3463	c.3463C>T	c.(3463-3465)Cac>Tac	p.H1155Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1155						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTGTCTTCCCACTCAGGGAC	0.677000													5	98					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304821	67304821	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:67304821G>A	ENST00000299798.11	+	16	2464	c.2399G>A	c.(2398-2400)aGc>aAc	p.S800N		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	800					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCCCTGGAGAGCCTAGCGTCC	0.617000													4	65					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660659	35660659	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:35660659C>T	ENST00000216106.5	+	5	406	c.278C>T	c.(277-279)tCg>tTg	p.S93L	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	93					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTTGGAATCGTCACAGAAG	0.433000													5	99					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61295562	61295562	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:61295562C>T	ENST00000263846.4	-	5	774	c.447G>A	c.(445-447)gaG>gaA	p.E149E	SYT7_ENST00000535826.1_Silent_p.E268E|SYT7_ENST00000542670.1_Silent_p.E357E|SYT7_ENST00000540677.1_Silent_p.E224E|SYT7_ENST00000539008.1_Silent_p.E432E|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Silent_p.E193E	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	149	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGAGCGTGGACTCCTGGAAGT	0.632000													4	63					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558903	129558903	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:129558903C>T	ENST00000422113.2	-	9	3143	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	TMEM132D_ENST00000389441.4_Silent_p.V477V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	939						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGCAAAGGTCACACAGTTTA	0.463000													5	59					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59946488	59946488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:59946488G>A	ENST00000444766.3	-	23	3250	c.3175C>T	c.(3175-3177)Cag>Tag	p.Q1059*	INTS2_ENST00000251334.6_Nonsense_Mutation_p.Q1051*	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1059					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAAAGCAACTGGATAGCAAAT	0.313000													3	24					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114060	11114060	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:11114060G>A	ENST00000409790.1	+	12	1544	c.1314G>A	c.(1312-1314)atG>atA	p.M438I	CLEC16A_ENST00000409552.3_Missense_Mutation_p.M420I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	438								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGATCGAGATGGTGATCATGG	0.532000													5	42					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427920	42427920	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:42427920C>T	ENST00000053867.3	+	6	635	c.573C>T	c.(571-573)ctC>ctT	p.L191L	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	191					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAAAGAAGCTCCCTGCCCAGA	0.627000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	85					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47942867	47942867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:47942867G>A	ENST00000402813.3	-	9	926	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	CNGA1_ENST00000358519.4_Nonsense_Mutation_p.Q193*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.Q193*|CNGA1_ENST00000420489.2_Nonsense_Mutation_p.Q193*|CNGA1_ENST00000514170.1_Nonsense_Mutation_p.Q193*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	193					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATCAGATTGAAGTTCATCA	0.289000													4	33					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56886156	56886156	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:56886156C>T	ENST00000244040.3	+	2	375	c.94C>T	c.(94-96)Cca>Tca	p.P32S	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	32					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CAGTTTTGATCCAAACATCAA	0.388000													5	68					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113854	107113854	+	RNA	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:107113854C>T	ENST00000454421.2	-	0	317																											ACAGAGTCTGCATAATATGTG	0.493000													13	194					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171013	117171013	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:117171013G>A	ENST00000003084.6	+	4	466	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CFTR_ENST00000454343.1_Missense_Mutation_p.D112N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	112	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTATGACCCGGATAACAAGGA	0.428000									Cystic Fibrosis				3	15					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22670518	22670518	+	RNA	SNP	T	T	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:22670518T>A	ENST00000390460.1	+	0	40																											TATCTTTGGGTAAGTGTTCTG	0.433000													3	7					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57078992	57078992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:57078992C>T	ENST00000316981.3	-	5	1792	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	PLAG1_ENST00000423799.2_Missense_Mutation_p.G356E|PLAG1_ENST00000429357.2_Missense_Mutation_p.G438E	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	438	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCAAGGCTCCCCACTGATAG	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								5	65					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8119365	8119365	+	Silent	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:8119365G>A	ENST00000305253.4	+	9	1396	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	TUB_ENST00000299506.2_Silent_p.G330G|TUB_ENST00000534099.1_Silent_p.G336G	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	330					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCTATATCGGGAAACTGCGGT	0.552000													4	65					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036892	240036892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:240036892G>A	ENST00000345617.3	-	13	2424	c.1633C>T	c.(1633-1635)Ccg>Tcg	p.P545S	HDAC4_ENST00000543185.1_Missense_Mutation_p.P129S|HDAC4_ENST00000541256.1_Missense_Mutation_p.P519S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	545					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P545S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTCTGCCCCGGCAGCCGGTCC	0.701000													8	112					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101712206	101712206	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:101712206C>T	ENST00000251127.6	-	42	4950	c.4869G>A	c.(4867-4869)acG>acA	p.T1623T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1623						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTGGCATTCGTGTCCTCAC	0.542000													6	50					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31475729	31475729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:31475729C>T	ENST00000457010.2	+	4	2086	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	ARMC5_ENST00000563544.1_Missense_Mutation_p.S462F|ARMC5_ENST00000412665.2_Missense_Mutation_p.S106F|ARMC5_ENST00000408912.3_Missense_Mutation_p.S557F|ARMC5_ENST00000538189.1_Missense_Mutation_p.S494F|ARMC5_ENST00000268314.4_Missense_Mutation_p.S462F	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	462							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCTGATCTCCGAGGGCTAT	0.637000													3	22					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102662225	102662225	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:102662225C>T	ENST00000315274.6	-	8	1102	c.1033_splice	c.e8-1	p.G345_splice	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	345	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AGTACTTATTCCCTGCCAATC	0.433000													5	92					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719536	95719536	+	RNA	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:95719536C>T	ENST00000480546.1	-	0	1761					NR_002319.2																						CAGTCATTATCCAGTGTGATA	0.537000													3	17					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49414923	49414923	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:49414923C>A	ENST00000374201.3	-	14	1967	c.1665G>T	c.(1663-1665)gaG>gaT	p.E555D	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E523D|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E530D	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	555	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCTCCTCTTCTCTGAGAATA	0.478000													3	41					6.4e-05	6.54302e-05	1	1	0
VGLL1	51442	broad.mit.edu	37	X	135638623	135638623	+	Silent	SNP	A	A	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:135638623A>G	ENST00000370634.3	+	5	872	c.702A>G	c.(700-702)ttA>ttG	p.L234L	VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	234					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)					TTTCAGAGTTAGAGACACCTG	0.483000													3	30					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661064	8661064	+	Silent	SNP	C	C	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:8661064C>T	ENST00000270328.4	-	10	1496	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ADAMTS10_ENST00000597188.1_Silent_p.G410G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	410	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GACCACGGGCCCCACAGCTGT	0.627000													5	75					0	0	1	0	0
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	RNA	INS	-	-	AAC	rs112328257	by1000genomes	TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:13174141_13174142insAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.550													4	7	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	5	---	---	---	---					
