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
OR4A15	81328	broad.mit.edu	37	11	55136039	55136039	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:55136039T>A	ENST00000314706.3	+	1	680	c.680T>A	c.(679-681)aTg>aAg	p.M227K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGGCTTTCTATGATAGCTAAT	0.438000													35	38					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942902	46942902	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:46942902G>C	ENST00000429979.1	-	4	1188	c.584C>G	c.(583-585)cCa>cGa	p.P195R	KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P195R|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P128R|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P38R|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P195R|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P195R|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P195R|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.P60R|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.P38R	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	195										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AAATACCTCTGGTGAGAAGGA	0.358000													21	77					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77397723	77397723	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:77397723G>T	ENST00000282849.5	-	6	1450	c.1032C>A	c.(1030-1032)agC>agA	p.S344R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	344	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAAGAATTAGGCTCACCACAA	0.378000													23	17					5.35356e-11	6.73936e-11	1	1	0
SLC8B1	80024	broad.mit.edu	37	12	113754409	113754409	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:113754409C>A	ENST00000552014.1	-	11	1430	c.915G>T	c.(913-915)ctG>ctT	p.L305L	SLC24A6_ENST00000546737.1_Silent_p.L249L|SLC24A6_ENST00000202831.3_Silent_p.L305L|SLC24A6_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN		305					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GGGCCCGGACCAGGATCTGAG	0.587000													51	185					8.04919e-23	1.11673e-22	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:22369079C>G	ENST00000332663.2	+	1	602	c.504C>G	c.(502-504)ttC>ttG	p.F168L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493000													11	374					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642758	39642758	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:39642758A>G	ENST00000393986.2	-	8	1336	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	KRT36_ENST00000328119.6_Missense_Mutation_p.V425A			O76013	KRT36_HUMAN	keratin 36	425	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GACACAGGGCACCGGGGGGAC	0.582000													7	20					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171132	150171132	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:150171132C>T	ENST00000307271.3	+	4	1289	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	239						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCACAGGACCCGAGCAGAA	0.552000													31	76					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141957570	141957570	+	Splice_Site	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:141957570T>A	ENST00000547058.2	-	2	68		c.e2-2		PRSS58_ENST00000552471.1_5'UTR	NM_001001317.3	NP_001001317.1	Q8IYP2	PRS58_HUMAN	protease, serine, 58						proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TCTGGAAAACTGGGAAGAGAG	0.363000													11	19					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24384112	24384112	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:24384112C>T	ENST00000330966.7	-	37	4227	c.4065G>A	c.(4063-4065)ctG>ctA	p.L1355L	MYOM3_ENST00000338909.5_Silent_p.L245L|MYOM3_ENST00000374434.3_Silent_p.L1352L|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1352	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGTCAAGCACAGGGTCTGTT	0.512000													3	22					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105618508	105618508	+	Silent	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:105618508G>C	ENST00000331782.3	-	6	1312	c.909C>G	c.(907-909)ctC>ctG	p.L303L	JAG2_ENST00000347004.2_Silent_p.L303L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	303	EGF-like 2; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTTTGTCACAGAGCAGGCCGC	0.637000													59	103					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192091	45192091	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:45192091T>A	ENST00000279027.4	-	12	1612	c.1594A>T	c.(1594-1596)Atc>Ttc	p.I532F	SLC13A3_ENST00000472148.1_Missense_Mutation_p.I450F|SLC13A3_ENST00000435032.1_Missense_Mutation_p.I117F|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I485F|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I482F|SLC13A3_ENST00000396360.1_Missense_Mutation_p.I450F|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I485F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	532						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCGAAGGCGATGGAGTTGGGG	0.637000													7	24					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377282	28377282	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:28377282G>A	ENST00000261609.7	-	81	12642	c.12534C>T	c.(12532-12534)ggC>ggT	p.G4178G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4178					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCTCCCCGGCCGAGCTTGC	0.632000													3	16					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58318232	58318232	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:58318232G>T	ENST00000371015.1	+	2	656	c.189G>T	c.(187-189)agG>agT	p.R63S	PHACTR3_ENST00000361300.4_Missense_Mutation_p.R22S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R60S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R22S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R22S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R22S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R22S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	63						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCTGTGAGGAGGAACAGCA	0.527000													20	60					1.33834e-09	1.64008e-09	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111464192	111464192	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:111464192G>T	ENST00000265162.5	+	13	2308	c.1966G>T	c.(1966-1968)Gca>Tca	p.A656S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	656					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGCAGATCGTGCAAGTCTTAT	0.323000													29	29					1.39806e-14	1.83495e-14	1	1	0
CEP170	9859	broad.mit.edu	37	1	243329016	243329016	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:243329016T>G	ENST00000366542.1	-	13	2297	c.2246A>C	c.(2245-2247)cAa>cCa	p.Q749P	CEP170_ENST00000366544.1_Missense_Mutation_p.Q651P|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.Q651P	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	749						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTTGTTGTTGAAGTTTTGC	0.378000													32	114					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70488375	70488375	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:70488375C>T	ENST00000260128.4	+	6	1060	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	SULF1_ENST00000458141.2_Missense_Mutation_p.P115S|SULF1_ENST00000419716.3_Missense_Mutation_p.P115S|SULF1_ENST00000402687.4_Missense_Mutation_p.P115S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	115					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTGCTCTTCCCCCTCGTGGCA	0.517000													36	40					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27231933	27231933	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:27231933A>T	ENST00000286096.4	+	8	1306	c.1133A>T	c.(1132-1134)aAg>aTg	p.K378M	KDM8_ENST00000441782.2_Missense_Mutation_p.K416M|KDM8_ENST00000568965.1_Missense_Mutation_p.K182M|KDM8_ENST00000380948.2_Missense_Mutation_p.K182M|KDM8_ENST00000567785.1_3'UTR	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	378	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										AAGTTTGCCAAGGCCCCATTC	0.542000													13	137					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77246788	77246788	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:77246788T>A	ENST00000329101.4	+	9	2650	c.2594T>A	c.(2593-2595)cTg>cAg	p.L865Q	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.L878Q|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.L406Q|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000397790.2_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	878	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCAGCACCTGCCGTCCACG	0.701000													14	34					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041670	51041670	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:51041670C>G	ENST00000329492.3	+	3	307	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R37G|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R64G|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R64G|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	64					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCTGGGGCGCTCGGAGCA	0.612000													10	13					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149035331	149035331	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:149035331G>A	ENST00000355292.3	-	8	3097	c.2735C>T	c.(2734-2736)aCt>aTt	p.T912I	NR3C2_ENST00000344721.4_Missense_Mutation_p.T908I|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.T908I|NR3C2_ENST00000512865.1_Missense_Mutation_p.T791I|NR3C2_ENST00000511528.1_Missense_Mutation_p.T912I			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	908	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGGACACTTAGTTACCATCTT	0.473000													8	14					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81335648	81335648	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:81335648A>G	ENST00000222390.5	-	15	1938	c.1712T>C	c.(1711-1713)gTa>gCa	p.V571A	HGF_ENST00000457544.2_Missense_Mutation_p.V566A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	571	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGGGCCATATACCAGCTGGGA	0.403000													4	56					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959847	53959847	+	RNA	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53959847G>T	ENST00000454407.1	+	0	2539							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATGAGTGTGGCAAGAACTT	0.393000													44	58					1.00001e-27	1.42155e-27	1	1	0
CERKL	375298	broad.mit.edu	37	2	182413560	182413560	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:182413560C>T	ENST00000410087.3	-	7	1020	c.920G>A	c.(919-921)tGc>tAc	p.C307Y	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Missense_Mutation_p.C333Y|CERKL_ENST00000409440.3_Missense_Mutation_p.C289Y|CERKL_ENST00000374969.2_Missense_Mutation_p.C194Y|CERKL_ENST00000374970.2_Missense_Mutation_p.C238Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	333	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCTGAAGGTGCAGACGTCGAC	0.433000													14	40					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111714134	111714134	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:111714134A>G	ENST00000435970.1	-	7	1189	c.373T>C	c.(373-375)Tca>Cca	p.S125P	REV3L_ENST00000368805.1_Missense_Mutation_p.S203P|REV3L_ENST00000358835.3_Missense_Mutation_p.S203P|REV3L_ENST00000368802.3_Missense_Mutation_p.S203P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	203					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GAATTTCCTGATAAATGATTC	0.294000								DNA polymerases (catalytic subunits)					13	12					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721230	20721230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:20721230G>T	ENST00000404938.2	+	15	2462	c.1810G>T	c.(1810-1812)Gga>Tga	p.G604*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.G159*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	159	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGCGGAGAAAGGAGCACATGC	0.433000													11	77					1.58986e-06	1.80916e-06	1	1	0
NRD1	4898	broad.mit.edu	37	1	52255038	52255038	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:52255038G>A	ENST00000354831.7	-	33	3719	c.3530C>T	c.(3529-3531)tCt>tTt	p.S1177F	NRD1_ENST00000539524.1_Missense_Mutation_p.S1045F|NRD1_ENST00000352171.7_Missense_Mutation_p.S1109F|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1108					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CACTTCACAAGAAGAATTTGA	0.433000													5	50					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89317239	89317239	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:89317239G>T	ENST00000380265.5	+	6	1015	c.832G>T	c.(832-834)Ggt>Tgt	p.G278C	HERC6_ENST00000273960.3_Missense_Mutation_p.G278C|HERC6_ENST00000264346.7_Missense_Mutation_p.G278C	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TGAGAAGAGAGGTCCACAACT	0.433000													29	22					5.77227e-19	7.79763e-19	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561740	11561740	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:11561740C>T	ENST00000294484.6	+	2	829	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R231W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	231					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAAGAATGGGCGGTACCAGCC	0.692000													4	5					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192647	203192647	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:203192647C>T	ENST00000367229.1	-	5	490	c.456G>A	c.(454-456)aaG>aaA	p.K152K	CHIT1_ENST00000255427.3_Silent_p.K133K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.K143K	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	152					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGAAGCGCTCCTTGTCTACGG	0.617000													17	80					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51923189	51923189	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:51923189C>T	ENST00000371117.3	-	16	1719	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V482M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	482					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGGTGACCACATCAGGATTC	0.547000													38	65					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086155	16086155	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:16086155A>T	ENST00000281043.3	+	3	1628	c.1331A>T	c.(1330-1332)aAg>aTg	p.K444M		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	444	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTGCTGGAAAAGGAAAAATTG	0.488000			A		neuroblastoma								48	139					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116201510	116201510	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:116201510G>T	ENST00000369252.4	-	18	2090	c.1789C>A	c.(1789-1791)Cct>Act	p.P597T	ABLIM1_ENST00000369266.3_Missense_Mutation_p.P334T|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P597T|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P334T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P280T|ABLIM1_ENST00000277895.5_Missense_Mutation_p.P657T	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	657					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCATAGCCAGGGAGAGATGCA	0.408000													5	47					1.06961e-07	1.26384e-07	1	1	0
ZBTB21	49854	broad.mit.edu	37	21	43414197	43414197	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:43414197C>A	ENST00000310826.5	-	3	191	c.8G>T	c.(7-9)gGa>gTa	p.G3V	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.G3V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.G3V|ZBTB21_ENST00000398511.3_Missense_Mutation_p.G3V	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		ATGCAGTAATCCCTCCATGGC	0.448000													4	69					2.56e-06	2.89882e-06	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188487	140188487	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140188487G>A	ENST00000530339.1	+	1	1715	c.1715G>A	c.(1714-1716)gGc>gAc	p.G572D	PCDHA4_ENST00000356878.4_Missense_Mutation_p.G572D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G572D|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGGTGGCACTGGTGGC	0.677000													5	76					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696555	48696555	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:48696555G>A	ENST00000544264.1	-	1	3793	c.3513C>T	c.(3511-3513)aaC>aaT	p.N1171N	CELSR3_ENST00000164024.4_Silent_p.N1171N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1171	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATCTGGAAGTTGTTGAGCA	0.552000													13	69					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149906927	149906927	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:149906927C>A	ENST00000439741.2	-	5	670	c.420G>T	c.(418-420)ctG>ctT	p.L140L	MTMR11_ENST00000406732.3_Silent_p.L112L|MTMR11_ENST00000369140.3_Silent_p.L68L|MTMR11_ENST00000361405.6_Silent_p.L140L|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	140							phosphatase activity	p.L140L(1)|p.L68L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAACTCTGAGCAGCCGGAAGT	0.557000													19	34					2.35188e-11	2.9933e-11	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79359801	79359801	+	Silent	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:79359801A>C	ENST00000264895.6	+	39	5735	c.5295A>C	c.(5293-5295)tcA>tcC	p.S1765S	FRAS1_ENST00000325942.6_Silent_p.S1765S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1764					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TAagaatctcaggatctgagg	0.398000													4	17					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32188044	32188044	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:32188044C>A	ENST00000400246.1	+	11	792	c.650C>A	c.(649-651)aCa>aAa	p.T217K	DEPDC5_ENST00000382105.2_Missense_Mutation_p.T217K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T217K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T217K|DEPDC5_ENST00000400242.3_Missense_Mutation_p.T217K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T217K|DEPDC5_ENST00000536766.1_Missense_Mutation_p.T189K|DEPDC5_ENST00000400248.1_Missense_Mutation_p.T217K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T217K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T217K			O75140	DEPD5_HUMAN	DEP domain containing 5	217					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATGAAGTGACAGTGGTCCTG	0.388000													5	43					0.0215528	0.0221275	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48190512	48190512	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:48190512G>A	ENST00000400384.2	+	2	1220	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	MAPK4_ENST00000592595.1_Missense_Mutation_p.A62T|MAPK4_ENST00000588540.1_Missense_Mutation_p.A62T|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	62	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CATGAAGCACGCGCTCCGAGA	0.612000													13	30					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14485341	14485341	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:14485341G>C	ENST00000344204.4	+	47	6845	c.6821G>C	c.(6820-6822)cGc>cCc	p.R2274P	TRIO_ENST00000537187.1_Missense_Mutation_p.R2274P	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2274					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAAACCAGCGCAATTTTTTA	0.398000													14	38					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588842	57588842	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:57588842A>G	ENST00000243077.3	+	51	8732	c.8266A>G	c.(8266-8268)Agc>Ggc	p.S2756G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2756	LDL-receptor class A 16.				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)	GTGTGACGGCAGCGATGACTG	0.612000													46	89					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825038	10825038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:10825038C>A	ENST00000526148.1	-	9	1312	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	EIF4G2_ENST00000525681.1_Nonsense_Mutation_p.E268*|EIF4G2_ENST00000339995.5_Nonsense_Mutation_p.E268*|EIF4G2_ENST00000396525.2_Nonsense_Mutation_p.E268*	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	268	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGGCTCGTTCATGGTCTAAT	0.403000													8	31					1.12685e-05	1.2636e-05	1	1	0
KIAA1467	57613	broad.mit.edu	37	12	13214692	13214692	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:13214692C>T	ENST00000197268.8	+	4	836	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	239						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTCAATGCAACGTCAGGTAAA	0.458000													7	33					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153421	5153421	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:5153421G>T	ENST00000307388.1	-	1	451	c.452C>A	c.(451-453)aCa>aAa	p.T151K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCCTGAGTGTCACCCCAAG	0.478000													26	22					9.57634e-11	1.19899e-10	1	1	0
OR2A14	135941	broad.mit.edu	37	7	143826429	143826429	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:143826429A>G	ENST00000408899.2	+	1	279	c.224A>G	c.(223-225)aAc>aGc	p.N75S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TATGCTTCCAACTATGTCCCC	0.448000													18	224					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67895920	67895920	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:67895920C>G	ENST00000370994.4	-	1	178	c.64G>C	c.(64-66)Gac>Cac	p.D22H	SERBP1_ENST00000370995.2_Missense_Mutation_p.D22H|SERBP1_ENST00000370990.5_Missense_Mutation_p.D22H|SERBP1_ENST00000361219.6_Missense_Mutation_p.D22H	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	22					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GATTCGTCGTCAAATAACTGG	0.622000													6	97					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431406	103431406	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:103431406G>T	ENST00000412401.2	+	5	874	c.669G>T	c.(667-669)tgG>tgT	p.W223C	TMEM182_ENST00000409528.1_Missense_Mutation_p.W127C|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.W180C	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	223			W -> R (in dbSNP:rs887987).			integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTGTTGGATGGCATATTCAGA	0.368000													4	34					0.150653	0.152302	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168104414	168104414	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:168104414C>A	ENST00000409195.1	+	9	6601	c.6512C>A	c.(6511-6513)cCa>cAa	p.P2171Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2171Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1949Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1996	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCAGCATGCCAGTTGGAGGA	0.353000													9	39					7.48243e-07	8.57787e-07	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55143615	55143615	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:55143615G>A	ENST00000257290.5	+	13	2178	c.1847G>A	c.(1846-1848)aGc>aAc	p.S616N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S376N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	616	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TATGGATTAAGCCGGTCCCAA	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	95					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6027040	6027040	+	Silent	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:6027040A>G	ENST00000265849.7	-	11	1461	c.1356T>C	c.(1354-1356)ggT>ggC	p.G452G	PMS2_ENST00000406569.3_Silent_p.G452G|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.G346G	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	452					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAGACAGCATACCCCTTTTCT	0.537000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	85					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149853788	149853788	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:149853788C>T	ENST00000435030.1	+	18	2402	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000397413.1_Silent_p.H446H			O60282	KIF5C_HUMAN	kinesin family member 5C	678					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408000													7	14					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151191	105151191	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:105151191C>A	ENST00000303694.5	+	3	1108	c.669C>A	c.(667-669)aaC>aaA	p.N223K	CHST11_ENST00000549260.1_Missense_Mutation_p.N218K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567000													8	87					0.0477658	0.0485006	1	1	0
U2SURP	23350	broad.mit.edu	37	3	142775251	142775251	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:142775251C>G	ENST00000397933.2	+	27	3104	c.1822C>G	c.(1822-1824)Cca>Gca	p.P608A	U2SURP_ENST00000493598.2_Missense_Mutation_p.P1016A|U2SURP_ENST00000473835.2_Missense_Mutation_p.P1017A			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	1017	CID.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GTCCAGATCTCCACACAGGTC	0.408000													3	34					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416372	5416372	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:5416372A>T	ENST00000341928.2	-	13	1852	c.1512T>A	c.(1510-1512)ccT>ccA	p.P504P	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.P504P|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	504	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCCAAGCCCAGGTGACTGAT	0.473000													13	24					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16962047	16962047	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:16962047C>G	ENST00000377833.4	-	44	6801	c.6736G>C	c.(6736-6738)Gat>Cat	p.D2246H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2246	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAATGCAATCAGCGTGCGGG	0.493000													5	29					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924726	150924726	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:150924726C>G	ENST00000261800.5	-	9	5974	c.5962G>C	c.(5962-5964)Gtg>Ctg	p.V1988L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1988	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGAATCACCAGTGCCTTT	0.448000													7	42					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50918220	50918220	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:50918220G>A	ENST00000442544.2	+	17	3267	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	DCC_ENST00000581580.1_Missense_Mutation_p.R519Q|DCC_ENST00000412726.1_Missense_Mutation_p.R712Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	884	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TACACCGTCCGGTGGAGAACC	0.438000													17	27					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137128844	137128844	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:137128844G>A	ENST00000453654.1	-	28	2310	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	DGKI_ENST00000424189.2_Missense_Mutation_p.P935S|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.P922S|DGKI_ENST00000446122.1_Missense_Mutation_p.P904S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	922					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAAGAGACTGGTGACCTAAAA	0.299000													5	12					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590818	83590818	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:83590818C>T	ENST00000265362.3	-	17	2499	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D729N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	729	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity	p.D729Y(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGTTTTCGGTCCCTTTTCCAA	0.468000													7	113					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2284186	2284186	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:2284186G>A	ENST00000301727.4	+	10	1438	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.A464T	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	464	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCGTTCGCCTGCGCGCA	0.706000													6	33					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072965	34072965	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:34072965C>A	ENST00000254466.6	-	6	1578	c.1551G>T	c.(1549-1551)agG>agT	p.R517S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R501S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	517					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGGAAAGCTCCTTCCTGGTG	0.612000													21	40					1.01871e-10	1.26859e-10	1	1	0
ELMO1	9844	broad.mit.edu	37	7	37262253	37262253	+	Silent	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:37262253C>G	ENST00000310758.4	-	10	1394	c.747G>C	c.(745-747)gcG>gcC	p.A249A	ELMO1_ENST00000442504.1_Silent_p.A249A|ELMO1_ENST00000448602.1_Silent_p.A249A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	249					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCAGGAAAAGCGCATTAATCA	0.423000													5	85					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16774625	16774625	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:16774625G>A	ENST00000337132.5	+	4	459	c.369G>A	c.(367-369)caG>caA	p.Q123Q	NECAP2_ENST00000443980.2_Silent_p.Q123Q|NECAP2_ENST00000457722.2_Silent_p.Q97Q|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000406746.1_Silent_p.Q123Q	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	123					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCATTGCAGGACCATTTCA	0.522000													32	91					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566181	155566181	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:155566181A>T	ENST00000295101.2	+	2	1246	c.769A>T	c.(769-771)Aca>Tca	p.T257S	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	257					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGTTTTAGTACAGGGGCAGA	0.478000													5	46					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:171520876G>A	ENST00000176763.5	-	9	1437	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	365							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587000													13	48					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315535	45315535	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:45315535A>T	ENST00000391955.1	+	3	364	c.320A>T	c.(319-321)cAg>cTg	p.Q107L	BCAM_ENST00000270233.6_Missense_Mutation_p.Q107L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	107	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGGACTCCCAGGGGCGCCTG	0.711000													4	29					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181836	57181836	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:57181836C>A	ENST00000504228.1	+	6	2273	c.2168C>A	c.(2167-2169)cCt>cAt	p.P723H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P716H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P723H			Q6ZU35	K1211_HUMAN	KIAA1211	723										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCTATTATGCCTGCCTGGCAG	0.562000													28	172					1.42536e-11	1.82921e-11	1	1	0
DNM2	1785	broad.mit.edu	37	19	10935748	10935748	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:10935748G>A	ENST00000314646.5	+	18	2073	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	DNM2_ENST00000355667.6_Missense_Mutation_p.G637R|DNM2_ENST00000585892.1_Missense_Mutation_p.G637R|DNM2_ENST00000408974.4_Missense_Mutation_p.G633R|DNM2_ENST00000389253.4_Missense_Mutation_p.G637R|DNM2_ENST00000359692.6_Missense_Mutation_p.G633R			P50570	DYN2_HUMAN	dynamin 2	637					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AAACGAGGATGGGGCCCAGGA	0.597000			"""F, N, Splice, Mis, O"""		ETP ALL								9	80					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98764496	98764496	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:98764496G>T	ENST00000266058.4	-	33	3909	c.3664C>A	c.(3664-3666)Cgt>Agt	p.R1222S	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R1222S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1222	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TAGCTGACACGCACATGGCCC	0.612000													14	20					7.93312e-07	9.04963e-07	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215259841	215259841	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:215259841G>T	ENST00000444842.2	+	2	327	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KCNK2_ENST00000391894.2_Missense_Mutation_p.W44C|KCNK2_ENST00000391895.2_Missense_Mutation_p.W55C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	59							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TTATGAAATGGAAGACGGTCT	0.512000													6	61					3.59834e-05	3.96762e-05	1	1	0
HSPA4	3308	broad.mit.edu	37	5	132425293	132425293	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:132425293C>G	ENST00000304858.2	+	11	1573	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	428					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTCCTTTCTCTAAAGTTC	0.388000													3	19					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28636192	28636192	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:28636192C>T	ENST00000380982.4	-	3	261	c.180G>A	c.(178-180)ccG>ccA	p.P60P	FLT3_ENST00000537084.1_Silent_p.P60P|FLT3_ENST00000241453.7_Silent_p.P60P			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	60					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGAGGTCTTCCGGGGATTCTG	0.488000			"""Mis, O"""		"""AML, ALL"""								6	50					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604265	140604265	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140604265C>A	ENST00000239449.4	+	1	1188	c.1188C>A	c.(1186-1188)acC>acA	p.T396T	PCDHB14_ENST00000515856.2_Silent_p.T243T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		396	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACCGACCTTCAAGAACT	0.453000													17	92					1.15088e-07	1.34951e-07	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88965792	88965792	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:88965792C>A	ENST00000333190.4	+	4	4105	c.3496C>A	c.(3496-3498)Cag>Aag	p.Q1166K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1166						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCTACAAGCCCAGCAGCATAT	0.448000										HNSCC(36;0.09)			30	55					2.12542e-12	2.75054e-12	1	1	0
CTBS	1486	broad.mit.edu	37	1	85036299	85036299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:85036299G>T	ENST00000370630.4	-	2	330	c.282C>A	c.(280-282)taC>taA	p.Y94*	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	94						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTGAATGAGCGTAGCACATAA	0.373000													12	40					2.27111e-07	2.64963e-07	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35900606	35900606	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:35900606G>C	ENST00000325722.3	-	21	3273	c.3039C>G	c.(3037-3039)atC>atG	p.I1013M	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I450M	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1013						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCATGTAAAGATGGCATCAT	0.562000													4	38					0	0	1	0	0
UBE2E1	7324	broad.mit.edu	37	3	23932088	23932088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:23932088C>A	ENST00000306627.3	+	6	792	c.573C>A	c.(571-573)taC>taA	p.Y191*	UBE2E1_ENST00000424381.1_Nonsense_Mutation_p.Y158*|UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Nonsense_Mutation_p.Y174*	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						CCAAGAGATACGCTACATAAA	0.458000													22	12					4.35082e-09	5.27579e-09	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25304848	25304848	+	RNA	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:25304848C>A	ENST00000549804.2	+	0	241																											TAGGTTCCACCACCCAGGGCA	0.547000													18	47					0.000566183	0.000606906	1	1	0
IL21R	50615	broad.mit.edu	37	16	27460061	27460061	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:27460061G>T	ENST00000337929.3	+	9	1547	c.1074G>T	c.(1072-1074)tcG>tcT	p.S358S	IL21R_ENST00000395755.1_Silent_p.S358S|IL21R_ENST00000395754.4_Silent_p.S358S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.S358S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	358					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCAGAACTCGGGGGGCTCAG	0.622000			T	BCL6	NHL								11	69					0.00010058	0.000110114	1	1	0
MUC17	140453	broad.mit.edu	37	7	100679619	100679619	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:100679619C>A	ENST00000306151.4	+	3	4986	c.4922C>A	c.(4921-4923)aCg>aAg	p.T1641K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1641	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)					GTCAGCACCACGCCGGTGGCC	0.488000													5	487					0.184627	0.185834	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158637774	158637774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:158637774C>A	ENST00000368148.3	-	15	2092	c.1912G>T	c.(1912-1914)Gaa>Taa	p.E638*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E638*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	638					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E638K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTATGTTTTCCAGCTGGGTC	0.443000													20	77					0.000175454	0.000190281	1	1	0
FCN1	2219	broad.mit.edu	37	9	137806602	137806602	+	Splice_Site	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:137806602C>A	ENST00000371806.3	-	3	362	c.271_splice	c.e3+1	p.G91_splice		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	91	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCTGGTTACCTTTGGGCCCC	0.527000													3	9					0.004672	0.00487238	1	1	0
GYS2	2998	broad.mit.edu	37	12	21733364	21733364	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:21733364T>A	ENST00000261195.2	-	2	469	c.215A>T	c.(214-216)cAt>cTt	p.H72L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	72					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCATATTATGCTCAAAATA	0.423000													37	68					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25926007	25926007	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:25926007T>C	ENST00000356865.6	-	19	3739	c.3628A>G	c.(3628-3630)Atc>Gtc	p.I1210V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1210					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCAGCGCGATTGTCACAATA	0.567000													14	138					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633899	32633899	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:32633899A>G	ENST00000242310.4	-	1	1768	c.1679T>C	c.(1678-1680)cTc>cCc	p.L560P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	560					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTGCCCAAGAGAATTCGACT	0.448000													7	264					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11192580	11192580	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:11192580C>G	ENST00000379446.5	-	4	827	c.661G>C	c.(661-663)Ggg>Cgg	p.G221R	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G221R	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	221	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TCACTCACCCCTTTTGTAGGC	0.517000													11	6					0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34304698	34304698	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:34304698C>T	ENST00000293275.3	-	3	342	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	89					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTGGGATCCTTGATGTACT	0.507000													45	68					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249772	52249772	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52249772G>A	ENST00000595042.1	-	3	617	c.476C>T	c.(475-477)cCa>cTa	p.P159L	FPR1_ENST00000304748.4_Missense_Mutation_p.P159L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	159					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AATGATAACTGGCAATGTGAG	0.532000													39	33					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57856958	57856958	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:57856958C>G	ENST00000381227.1	+	4	550	c.137C>G	c.(136-138)tCt>tGt	p.S46C	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.S46C|POLR2B_ENST00000441246.2_Missense_Mutation_p.S39C			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	46					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CAGCTGGATTCTTTTGATGAG	0.398000													8	142					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53987073	53987073	+	Translation_Start_Site	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53987073A>T	ENST00000396403.4	+	0	125				ZNF813_ENST00000396421.4_De_novo_Start_OutOfFrame	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAAGGAGTCAGGGATGGCTC	0.438000													13	58					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455447	29455447	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:29455447A>T	ENST00000377127.3	-	1	291	c.233T>A	c.(232-234)aTt>aAt	p.I78N		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	78						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTTGGGGGCAATGATATTCAA	0.517000													7	30					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79365119	79365119	+	RNA	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:79365119C>G	ENST00000444841.1	-	0	139																											GAACATCAGGCAGGAGATCAG	0.493000													11	12					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3386147	3386147	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:3386147G>A	ENST00000378378.4	+	6	1417	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A50T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A50T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	338	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGTCCTGGGTGCCAGTCAGAG	0.647000													4	33					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25477376	25477376	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:25477376C>T	ENST00000278886.6	-	10	1306	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	NINL_ENST00000422516.1_Silent_p.E411E	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	411					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTTCCTCTTCTCGGCCCTCT	0.602000													11	50					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41077931	41077931	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:41077931G>C	ENST00000352632.3	+	34	7412	c.7326G>C	c.(7324-7326)tgG>tgC	p.W2442C	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.W1185C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.W2442C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2442	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.W2442C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGTCGTGGGTGAGCCTGT	0.562000													98	299					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635739	33635739	+	Silent	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:33635739C>G	ENST00000380099.3	+	4	2531	c.2523C>G	c.(2521-2523)tcC>tcG	p.S841S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	841	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCTCAACTCCCCCAGTCAGG	0.463000													10	70					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138216951	138216951	+	Splice_Site	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:138216951T>C	ENST00000264982.3	-	17	1920	c.1652_splice	c.e17-1	p.I552_splice	CEP70_ENST00000489254.1_Splice_Site_p.I400_splice|CEP70_ENST00000542237.1_Splice_Site_p.I532_splice|CEP70_ENST00000484888.1_Splice_Site_p.I552_splice	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	552					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTGTAGATAATGCTGTTTAAA	0.328000													31	17					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161623	141161623	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:141161623G>A	ENST00000514251.1	+	4	672	c.393G>A	c.(391-393)ccG>ccA	p.P131P	ZBTB38_ENST00000321464.5_Silent_p.P132P|ZBTB38_ENST00000441582.2_Silent_p.P131P			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	131					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAAATTCCCCGGGTCCCTATG	0.428000													13	87					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180055	124180055	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:124180055G>T	ENST00000357821.2	-	1	678	c.608C>A	c.(607-609)gCg>gAg	p.A203E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A203V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTAAACCCCGCAATGATAAA	0.488000													10	31					1.76689e-08	2.12027e-08	1	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50659133	50659133	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:50659133A>G	ENST00000439308.2	-	16	4147	c.3655T>C	c.(3655-3657)Tct>Cct	p.S1219P	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.S1219P	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1219	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGGTGTCAGACACATGTCCG	0.607000													6	83					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30342923	30342923	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:30342923T>G	ENST00000361371.4	-	8	1276	c.1126A>C	c.(1126-1128)Aat>Cat	p.N376H	LTN1_ENST00000389194.2_Missense_Mutation_p.N422H|LTN1_ENST00000389195.2_Missense_Mutation_p.N422H	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	376							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AACTTTGGATTTGTGATGGAC	0.373000													8	42					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641432	57641432	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:57641432A>T	ENST00000254181.4	+	4	1843	c.1389A>T	c.(1387-1389)aaA>aaT	p.K463N	USP29_ENST00000598197.1_Missense_Mutation_p.K463N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	463					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAAACAAAACCACTTCCTT	0.368000													4	120					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130851759	130851759	+	Silent	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:130851759A>G	ENST00000245255.3	+	19	2549	c.2277A>G	c.(2275-2277)ccA>ccG	p.P759P	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	759	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCAGAATCCACTTCCTGGAA	0.408000													28	60					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31368215	31368215	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:31368215A>T	ENST00000328111.2	+	2	407	c.86A>T	c.(85-87)gAc>gTc	p.D29V	DNMT3B_ENST00000375623.4_Missense_Mutation_p.D29V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.D29V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.D29V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.D41V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.D29V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.D29V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.D29V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	29	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGCAGCGACCAGTCCTCC	0.642000													6	29					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201481	179201481	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:179201481T>C	ENST00000292599.3	+	5	2917	c.2654T>C	c.(2653-2655)gTg>gCg	p.V885A	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	885					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCAGGCAGTGCCCAACAGG	0.627000													4	43					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661541	40661541	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:40661541C>T	ENST00000267889.3	+	8	3315	c.3228C>T	c.(3226-3228)ctC>ctT	p.L1076L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1076					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGGCGTGCTCATGCTGCCTG	0.617000													15	56					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752084	247752084	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:247752084C>T	ENST00000320065.1	+	1	423	c.423C>T	c.(421-423)atC>atT	p.I141I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATGCATATCCATCTCTGCA	0.572000													44	109					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769772	31769772	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:31769772G>T	ENST00000240587.4	-	2	1254	c.927C>A	c.(925-927)gtC>gtA	p.V309V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	309					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGACAGGAGTGACGGGTTCCT	0.532000													53	43					9.22156e-22	1.26796e-21	1	1	0
SLC26A5	375611	broad.mit.edu	37	7	103018200	103018200	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:103018200T>A	ENST00000306312.3	-	18	2093	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.D44V|SLC26A5_ENST00000339444.6_Missense_Mutation_p.D611V|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D581V|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D613V|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D574V|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D579V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.D579V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	611	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TACTTCACCATCCTCTTCTTC	0.408000													31	56					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344624	5344624	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:5344624T>A	ENST00000328813.2	-	1	958	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGGCGGATAATGCCATAT	0.373000													5	47					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433743	73433743	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:73433743G>T	ENST00000263666.4	-	10	2088	c.1974C>A	c.(1972-1974)agC>agA	p.S658R	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S375R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S315R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S315R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S380R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	658							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AAGGGGTGGCGCTCTTCACCT	0.652000													26	50					7.92952e-12	1.02046e-11	1	1	0
GPR116	221395	broad.mit.edu	37	6	46826148	46826148	+	Silent	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:46826148G>C	ENST00000283296.7	-	17	3780	c.3492C>G	c.(3490-3492)ctC>ctG	p.L1164L	GPR116_ENST00000456426.2_Silent_p.L1022L|GPR116_ENST00000545669.1_Silent_p.L593L|GPR116_ENST00000362015.4_Silent_p.L1164L|GPR116_ENST00000265417.7_Silent_p.L1164L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCCAGTTGAGCCAACAGA	0.552000													8	36					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1464254	1464254	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:1464254A>G	ENST00000331035.4	+	3	459	c.110A>G	c.(109-111)cAg>cGg	p.Q37R	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	37						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCAAAGGCTCAGCAGTTGACC	0.423000													11	140					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558388	106558388	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:106558388A>T	ENST00000526355.1	-	8	2554	c.2086T>A	c.(2086-2088)Ttc>Atc	p.F696I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.F717I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.F727I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	696					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACCTCCAGGAAATAGCAGATC	0.443000													12	86					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603078	53603078	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:53603078C>G	ENST00000219022.2	+	1	185	c.107C>G	c.(106-108)tCt>tGt	p.S36C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	36	Ser-rich.		S -> P (in dbSNP:rs35790097).		cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GGCTTCAGCTCTTTCCCAGGT	0.617000													42	86					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140285008	140285008	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:140285008G>A	ENST00000458420.3	+	17	2971	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	927	Glu-rich (highly acidic).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGAGGAGGAGGAGGAAGGGA	0.602000										HNSCC(16;0.037)			6	28					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994064	53994064	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53994064G>T	ENST00000396403.4	+	4	706	c.578G>T	c.(577-579)gGg>gTg	p.G193V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATAACTATGGGAATAATTTC	0.363000													8	142					0.0381472	0.0389051	1	1	0
DLK2	65989	broad.mit.edu	37	6	43418549	43418549	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:43418549C>G	ENST00000357338.3	-	6	1580	c.880G>C	c.(880-882)Gtg>Ctg	p.V294L	DLK2_ENST00000372488.3_Missense_Mutation_p.V294L|DLK2_ENST00000372485.1_Missense_Mutation_p.V288L|DLK2_ENST00000414245.1_Missense_Mutation_p.V288L	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	294						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCCGCACCACCTCCTTCACT	0.657000													48	115					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087393	39087393	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:39087393T>C	ENST00000400482.3	-	3	656	c.67A>G	c.(67-69)Agc>Ggc	p.S23G	KCNJ6_ENST00000288309.6_Missense_Mutation_p.S23G	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	23					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GCCACTGGGCTTTCGACGTCC	0.517000													5	49					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184972	105184972	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:105184972G>T	ENST00000369797.3	+	20	3089	c.2995G>T	c.(2995-2997)Gcc>Tcc	p.A999S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	999					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGGGCCGGCTGCCAAGAGGAC	0.547000													21	35					1.50039e-11	1.91486e-11	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67926194	67926194	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:67926194C>A	ENST00000304363.4	-	11	1972	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTCACTGACCGCCGAGTTAT	0.532000													12	85					4.3838e-07	5.07598e-07	1	1	0
ASB17	127247	broad.mit.edu	37	1	76397744	76397744	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:76397744C>A	ENST00000284142.6	-	1	372	c.233G>T	c.(232-234)gGa>gTa	p.G78V		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	78					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AAAACGGTATCCTGATTTTTC	0.383000													13	38					1.61879e-10	2.00504e-10	1	1	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100931	27100931	+	Silent	SNP	C	C	G	rs139431925		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:27100931C>G	ENST00000359193.2	+	1	100	c.81C>G	c.(79-81)ccC>ccG	p.P27P		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	27					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TCCAGTTCCCCGTGGGCCGAG	0.667000													9	49					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74364895	74364895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:74364895G>T	ENST00000226355.3	+	11	1447	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	452	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCTCTTGGCGAGAAAATGGT	0.443000													30	36					7.26314e-15	9.56003e-15	1	1	0
OLFM3	118427	broad.mit.edu	37	1	102290583	102290583	+	Splice_Site	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:102290583T>A	ENST00000370103.4	-	4	804	c.592_splice	c.e4+1	p.L197_splice	OLFM3_ENST00000536598.1_Splice_Site_p.L122_splice|OLFM3_ENST00000359814.3_Splice_Site_p.L217_splice|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Splice_Site_p.L217_splice	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	217						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATACTCACTTAGCTTTTTCA	0.343000													10	26					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127507386	127507386	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:127507386A>T	ENST00000262461.2	+	19	2940	c.2751A>T	c.(2749-2751)gtA>gtT	p.V917V	SLC12A2_ENST00000343225.4_Silent_p.V917V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	917					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AATATGGAGTAGTGGTTATTC	0.264000													7	58					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156764860	156764860	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:156764860G>C	ENST00000537611.2	-	5	880	c.834C>G	c.(832-834)caC>caG	p.H278Q		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	278						integral to membrane|plasma membrane											TTACCCTTGCGTGCATTCCCA	0.453000													10	56					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323320	31323320	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:31323320G>T	ENST00000265071.2	+	12	2543	c.2278G>T	c.(2278-2280)Gca>Tca	p.A760S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	760					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACCACGGATGCAGATCAAGA	0.532000													26	48					5.45024e-15	7.19432e-15	1	1	0
DEFB118	117285	broad.mit.edu	37	20	29960861	29960861	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:29960861T>A	ENST00000253381.2	+	2	293	c.260T>A	c.(259-261)gTa>gAa	p.V87E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	87					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTTAACAGTAAGGTTCACG	0.458000													38	48					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360922	27360922	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:27360922T>C	ENST00000335524.3	-	3	801	c.276A>G	c.(274-276)ccA>ccG	p.P92P		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	92	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGGGAACTTGGGAGAGAGG	0.572000													15	31					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187088146	187088146	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:187088146C>T	ENST00000356371.5	+	12	2062	c.2062C>T	c.(2062-2064)Cgt>Tgt	p.R688C	FAM149A_ENST00000503432.1_Missense_Mutation_p.R397C|FAM149A_ENST00000389354.5_Missense_Mutation_p.R397C|FAM149A_ENST00000514153.1_Missense_Mutation_p.R397C|FAM149A_ENST00000227065.4_Missense_Mutation_p.R397C|FAM149A_ENST00000502970.1_Missense_Mutation_p.R397C			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	688										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCTACAAAACCGTGTGTTGAG	0.443000													4	31					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997282	82997282	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:82997282C>A	ENST00000307792.3	-	17	2415	c.1948G>T	c.(1948-1950)Ggg>Tgg	p.G650W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G590W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	650	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATAGGTCCCAGCATCTGAT	0.418000													35	76					3.21399e-22	4.43243e-22	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81503351	81503351	+	Silent	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:81503351A>G	ENST00000548058.1	+	2	1234	c.324A>G	c.(322-324)ggA>ggG	p.G108G	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.G107G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	108						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTGGAAGGAATGCTTAACA	0.308000													6	29					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416182	153416182	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:153416182C>A	ENST00000369951.4	+	2	227	c.167C>A	c.(166-168)aCc>aAc	p.T56N	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	56					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCACCTCACCAGTGTCTGG	0.592000													11	59					5.50884e-06	6.19242e-06	1	1	0
NR2E1	7101	broad.mit.edu	37	6	108501525	108501525	+	Splice_Site	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:108501525A>G	ENST00000368986.4	+	6	1350		c.e6-1		NR2E1_ENST00000368983.3_Splice_Site	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATTGTATGACAGCTGATGCTT	0.313000													9	50					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660623	153660623	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:153660623G>A	ENST00000368680.3	+	15	2815	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	781	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGCTCATGCAGCGGTGCTGGG	0.622000													53	62					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99064263	99064263	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:99064263G>A	ENST00000376586.2	+	16	2137	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	FARP1_ENST00000319562.6_Missense_Mutation_p.E601K|FARP1_ENST00000595437.1_Missense_Mutation_p.E601K			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	601	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTCTCAAGGAAATTGAGCA	0.448000													55	79					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30619243	30619243	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:30619243G>A	ENST00000293604.6	+	4	1500	c.1307_splice	c.e4+1	p.R436_splice	C6orf136_ENST00000376471.4_Splice_Site_p.R121_splice|C6orf136_ENST00000376473.5_Splice_Site_p.R255_splice|C6orf136_ENST00000528347.2_Splice_Site_p.R112_splice	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	255								p.R112Q(1)|p.R436Q(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGCATTACCGGTAAGAGAGA	0.502000													4	145					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89317238	89317238	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:89317238A>C	ENST00000380265.5	+	6	1014	c.831A>C	c.(829-831)agA>agC	p.R277S	HERC6_ENST00000273960.3_Missense_Mutation_p.R277S|HERC6_ENST00000264346.7_Missense_Mutation_p.R277S	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	277					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTGAGAAGAGAGGTCCACAAC	0.433000													28	22					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436416	56436416	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:56436416G>A	ENST00000327381.5	+	3	1683	c.1583G>A	c.(1582-1584)tGt>tAt	p.C528Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	528						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGTTGTGCTTGTGAGGACCCA	0.532000													35	66					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823779	47823779	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:47823779G>T	ENST00000355085.3	+	2	767	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	249					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GGCAGTGGTGGCCAGTTTCTT	0.567000													7	78					0.00198382	0.00210212	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167837	140167837	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140167837C>A	ENST00000504120.2	+	1	1962	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.H654Q|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGATCACGGTGAGCCGG	0.662000													42	33					3.54561e-26	5.00939e-26	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189873733	189873733	+	Silent	SNP	T	T	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:189873733T>G	ENST00000304636.3	+	48	3779	c.3609T>G	c.(3607-3609)gcT>gcG	p.A1203A	COL3A1_ENST00000317840.5_Silent_p.A900A	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1203	Nonhelical region (C-terminal).			A -> P (in Ref. 8; CAA33387).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTGGAGCCGCTGCCATTGCTG	0.537000													15	56					0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25288374	25288374	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:25288374C>G	ENST00000323944.5	-	5	929	c.478G>C	c.(478-480)Gac>Cac	p.D160H	STXBP6_ENST00000546511.1_Missense_Mutation_p.D160H|STXBP6_ENST00000358326.2_Missense_Mutation_p.D160H|STXBP6_ENST00000419632.2_Missense_Mutation_p.D160H|STXBP6_ENST00000396700.1_Missense_Mutation_p.D160H|STXBP6_ENST00000548724.1_Missense_Mutation_p.D160H|STXBP6_ENST00000550887.1_Missense_Mutation_p.D160H|STXBP6_ENST00000548369.1_Missense_Mutation_p.D58H			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	160	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GTCACGCTGTCAGCAGCTGAA	0.567000													6	111					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38942467	38942467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:38942467G>T	ENST00000355481.4	+	12	1317	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.E396*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.E396*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	396					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCAGCAGGAGGAGTCCCAGGC	0.632000													12	44					0.000978159	0.00104367	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147012314	147012314	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:147012314G>T	ENST00000265272.5	-	13	2172	c.1705C>A	c.(1705-1707)Cgg>Agg	p.R569R	JAKMIP2_ENST00000507386.1_Silent_p.R548R|JAKMIP2_ENST00000333010.6_Silent_p.R527R	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	569						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGTAACCGGTGATTTTCT	0.378000													15	81					4.7546e-09	5.73532e-09	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935063	30935063	+	Silent	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:30935063G>C	ENST00000355537.3	+	2	741	c.594G>C	c.(592-594)ctG>ctC	p.L198L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAACCGCCTGCTGCACGAGC	0.701000													5	15					0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738096	130738096	+	Silent	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:130738096G>C	ENST00000410061.2	+	1	862	c.408G>C	c.(406-408)gtG>gtC	p.V136V		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	136					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGAGGCAAGTGTCAGTTGAGG	0.423000													6	196					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979623	240979623	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:240979623T>C	ENST00000366565.1	-	11	1158	c.777A>G	c.(775-777)caA>caG	p.Q259Q	RGS7_ENST00000331110.7_Silent_p.Q233Q|RGS7_ENST00000366564.1_Silent_p.Q259Q|RGS7_ENST00000366563.1_Silent_p.Q259Q|RGS7_ENST00000446183.2_Silent_p.Q175Q|RGS7_ENST00000407727.1_Silent_p.Q259Q|RGS7_ENST00000401882.1_Silent_p.Q206Q|RGS7_ENST00000366562.4_Silent_p.Q259Q|RGS7_ENST00000348120.2_Silent_p.Q206Q	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	259	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCACCTGTTGTTGTAACTCAT	0.373000													14	84					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355409	10355409	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:10355409A>T	ENST00000255381.2	-	27	3697	c.3587T>A	c.(3586-3588)cTt>cAt	p.L1196H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1196					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTTCCGAAGAGCAGCTGC	0.562000													6	114					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8486786	8486786	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:8486786C>A	ENST00000602117.1	+	2	517	c.62C>A	c.(61-63)gCc>gAc	p.A21D	MARCH2_ENST00000601283.1_Missense_Mutation_p.A21D|MARCH2_ENST00000215555.2_Missense_Mutation_p.A21D|MARCH2_ENST00000393944.1_Missense_Mutation_p.A21D|MARCH2_ENST00000381035.4_Missense_Mutation_p.A21D			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	21					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GGCAGCCCTGCCTTCTCCAAG	0.682000													4	53					0.00024832	0.000267422	1	1	0
ZFP3	124961	broad.mit.edu	37	17	4995441	4995441	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:4995441C>G	ENST00000318833.3	+	2	978	c.642C>G	c.(640-642)caC>caG	p.H214Q		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ACCTTATTCACCATCATAGAA	0.408000													10	91					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21747666	21747666	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:21747666G>T	ENST00000388958.3	+	21	2387	c.2386G>T	c.(2386-2388)Gtt>Ttt	p.V796F	OTOA_ENST00000286149.4_Missense_Mutation_p.V810F|OTOA_ENST00000388956.4_Missense_Mutation_p.V717F|OTOA_ENST00000388957.3_Missense_Mutation_p.V472F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	810					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTTTCAGTCTGTTCGGAACAG	0.473000													30	22					1.55811e-20	2.12344e-20	1	1	0
TRIM24	8805	broad.mit.edu	37	7	138209985	138209985	+	Splice_Site	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:138209985G>C	ENST00000343526.4	+	5	979		c.e5-1		TRIM24_ENST00000415680.2_Splice_Site|TRIM24_ENST00000497516.1_Splice_Site			O15164	TIF1A_HUMAN	tripartite motif containing 24						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TATTTCTTCAGATACCAATTT	0.244000													4	15					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800594	70800594	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:70800594T>C	ENST00000333538.5	+	2	931	c.297T>C	c.(295-297)ctT>ctC	p.L99L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	99						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGGGGCCTTCCGGCTACTC	0.458000													22	42					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167024981	167024981	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:167024981A>T	ENST00000367868.3	-	5	1020	c.677T>A	c.(676-678)gTg>gAg	p.V226E	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	226	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCTGACGGCCACCGTGATGTT	0.572000													5	64					0	0	1	0	0
ACOT1	641371	broad.mit.edu	37	14	74008367	74008367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:74008367G>T	ENST00000311148.4	+	2	936	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Nonsense_Mutation_p.E210*|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GTACTTTGAAGAAGCTGTGAA	0.463000													9	34					7.48243e-07	8.57787e-07	1	1	0
RNF125	54941	broad.mit.edu	37	18	29648307	29648307	+	Missense_Mutation	SNP	G	G	T	rs147556999		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:29648307G>T	ENST00000217740.3	+	6	1151	c.659G>T	c.(658-660)cGg>cTg	p.R220L	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	220					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTCTTAGACCGGTCACTTCTT	0.328000													7	69					0.000274275	0.000294686	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													6	177					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138402532	138402532	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:138402532T>C	ENST00000477593.1	-	17	2486	c.2413A>G	c.(2413-2415)Aaa>Gaa	p.K805E	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K805E|PIK3CB_ENST00000544716.1_Missense_Mutation_p.K251E			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	805	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCACCATTTTTAAAAATCACT	0.328000													23	92					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661845	227661845	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:227661845T>C	ENST00000305123.4	-	1	2630	c.1610A>G	c.(1609-1611)cAg>cGg	p.Q537R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	537					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGGTCTTCTGGTGGGTAAT	0.592000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	58					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957957	121957957	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:121957957C>T	ENST00000379692.4	-	4	1695	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	390										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCCATCTCTTCTCACTTGGAT	0.433000													36	40					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171248954	171248954	+	Silent	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:171248954A>G	ENST00000334231.6	+	16	1767	c.1767A>G	c.(1765-1767)agA>agG	p.R589R	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.R580R|MYO3B_ENST00000409044.3_Silent_p.R580R			Q8WXR4	MYO3B_HUMAN	myosin IIIB	580	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTACAGAAGACAATTCGAAG	0.403000													10	46					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101798616	101798616	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:101798616G>T	ENST00000375001.3	+	21	2770	c.2347G>T	c.(2347-2349)Gcc>Tcc	p.A783S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	783	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GATGGATGGAGCCAGTATTGT	0.507000													45	26					1.63429e-32	2.34485e-32	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75444618	75444618	+	Silent	SNP	C	C	T	rs139012036	byFrequency	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:75444618C>T	ENST00000549446.1	-	3	1847	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	KCNC2_ENST00000298972.1_Silent_p.L389L|KCNC2_ENST00000341669.3_Silent_p.L389L|KCNC2_ENST00000540018.1_Silent_p.L389L|KCNC2_ENST00000350228.2_Silent_p.L389L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Silent_p.L389L|KCNC2_ENST00000393288.2_Silent_p.L389L|KCNC2_ENST00000550433.1_Silent_p.L389L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	389					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTCCTAGAGCCAGGAAAATTA	0.438000													17	57					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448210	52448210	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52448210G>A	ENST00000293471.6	+	6	1753	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ZNF613_ENST00000391794.4_Silent_p.Q322Q|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAAATCACAGCTCAATGCAC	0.443000													26	65					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167669	8167669	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:8167669G>A	ENST00000402384.3	-	13	1430	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ICA1_ENST00000422063.2_Silent_p.G417G|ICA1_ENST00000406470.2_Silent_p.G388G|ICA1_ENST00000265577.7_Silent_p.G387G|ICA1_ENST00000401396.1_Silent_p.G376G|ICA1_ENST00000396675.3_Silent_p.G388G			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	388					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCTGAACTCGCCCTCTTCCA	0.597000													16	171					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102294679	102294679	+	RNA	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:102294679G>T	ENST00000561463.1	+	0	2725																											TTGGGAACAAGAAGACACTCG	0.587000													5	28					0.014758	0.0152192	1	1	0
RSAD2	91543	broad.mit.edu	37	2	7035913	7035913	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:7035913G>T	ENST00000382040.3	+	6	1062	c.926G>T	c.(925-927)cGc>cTc	p.R309L	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202L	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	309					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R309H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTCTAGATGCGCTTTCTGAAC	0.368000													9	29					7.48243e-07	8.57787e-07	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269300	28269300	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:28269300C>G	ENST00000405948.2	+	7	2089	c.1669C>G	c.(1669-1671)Caa>Gaa	p.Q557E	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q557E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	557					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGATAGTGACCAATTCCTGAA	0.363000													22	61					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100174757	100174757	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:100174757C>A	ENST00000310300.6	-	12	1368	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	LRCH4_ENST00000497245.1_De_novo_Start_InFrame	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	439					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAACAGCCCTGAGCCCTGG	0.632000													7	62					2.0095e-06	2.28105e-06	1	1	0
SLC8B1	80024	broad.mit.edu	37	12	113754408	113754408	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:113754408C>A	ENST00000552014.1	-	11	1431	c.916G>T	c.(916-918)Gtc>Ttc	p.V306F	SLC24A6_ENST00000546737.1_Missense_Mutation_p.V250F|SLC24A6_ENST00000202831.3_Missense_Mutation_p.V306F|SLC24A6_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN		306					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGGGCCCGGACCAGGATCTGA	0.587000													52	186					6.31075e-24	8.80836e-24	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81769716	81769716	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:81769716C>A	ENST00000550584.2	-	9	1285	c.990G>T	c.(988-990)atG>atT	p.M330I	PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M177I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M330I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M312I|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M330I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M231I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M330I|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M256I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M312I	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	256										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTTTTGTGCCATGGCCTACA	0.303000													11	22					1.08611e-07	1.2768e-07	1	1	0
KIAA1033	23325	broad.mit.edu	37	12	105553807	105553807	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:105553807A>T	ENST00000332180.5	+	29	3028	c.2941A>T	c.(2941-2943)Aca>Tca	p.T981S		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	981					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CAGTGATCACACACGAAATTC	0.363000													6	94					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580316	140580316	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140580316T>C	ENST00000354757.3	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCCACAGATGGGGGAGGAC	0.363000													11	65					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207812	58207812	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:58207812G>T	ENST00000377918.3	+	1	1158	c.1132G>T	c.(1132-1134)Gac>Tac	p.D378Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	378	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGGGTCACTGACCGGGACTC	0.736000													5	21					1.024e-07	1.21616e-07	1	1	0
TPTE	7179	broad.mit.edu	37	21	10970040	10970040	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:10970040C>A	ENST00000298232.7	-	6	455	c.88G>T	c.(88-90)Gga>Tga	p.G30*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.G30*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.G30*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	30					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGGTTGCTCCTTTAAATTCA	0.383000													12	81					0.00185496	0.00197009	1	1	0
STEAP2	261729	broad.mit.edu	37	7	89856732	89856732	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:89856732A>C	ENST00000287908.3	+	3	1333	c.940A>C	c.(940-942)Atg>Ctg	p.M314L	STEAP2_ENST00000394632.1_Missense_Mutation_p.M314L|STEAP2_ENST00000402625.2_Missense_Mutation_p.M314L|STEAP2_ENST00000394629.2_Missense_Mutation_p.M314L|STEAP2_ENST00000394621.2_Missense_Mutation_p.M314L|STEAP2_ENST00000394626.1_Missense_Mutation_p.M314L|STEAP2_ENST00000394622.2_Missense_Mutation_p.M314L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	314	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTTCTTCGCTATGGTCCATGT	0.413000													5	65					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804644	113804644	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:113804644A>T	ENST00000281273.4	+	10	1398	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	QTRTD1_ENST00000493014.1_Missense_Mutation_p.M275L|QTRTD1_ENST00000485050.1_Missense_Mutation_p.M393L|QTRTD1_ENST00000479882.1_Missense_Mutation_p.M258L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	381					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCTGCTTATGATGCACAACTT	0.483000													4	149					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453895	48453895	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:48453895C>T	ENST00000358536.4	-	26	5258	c.4989G>A	c.(4987-4989)ctG>ctA	p.L1663L	PLXNB1_ENST00000296440.6_Silent_p.L1663L|PLXNB1_ENST00000358459.4_Silent_p.L1480L|PLXNB1_ENST00000456774.1_Silent_p.L1480L|PLXNB1_ENST00000448774.2_Silent_p.L274L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1663					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGGGCAACCAGGTCACTGA	0.622000													24	17					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11327707	11327707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:11327707C>T	ENST00000294618.7	-	30	3788	c.3777G>A	c.(3775-3777)tgG>tgA	p.W1259*	DOCK6_ENST00000319867.7_Nonsense_Mutation_p.W598*	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1259					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTTTCAGCACCCACAGCACAC	0.597000													14	4					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52567814	52567814	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:52567814G>A	ENST00000261839.7	-	5	712	c.551C>T	c.(550-552)tCg>tTg	p.S184L	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Missense_Mutation_p.S127L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	184	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTTGCTGCCCGATTTGCTGAC	0.542000													8	84					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029528	49029528	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:49029528C>T	ENST00000376327.5	+	2	224	c.149C>T	c.(148-150)tCc>tTc	p.S50F	PLP2_ENST00000376322.3_Missense_Mutation_p.S50F	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	50	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CCAGGCTACTCCTCCCTGTCG	0.507000													14	7					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013712	31013712	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:31013712G>T	ENST00000409904.3	+	4	776	c.518G>T	c.(517-519)aGc>aTc	p.S173I	GHRHR_ENST00000326139.2_Missense_Mutation_p.S237I|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	237					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACCTCCCCCAGCTCAAGGAGA	0.637000													54	32					3.89483e-19	5.27686e-19	1	1	0
TMEM231	79583	broad.mit.edu	37	16	75576566	75576566	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:75576566C>A	ENST00000398114.2	-	4	723	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	RP11-77K12.7_ENST00000460606.1_Silent_p.T31T|TMEM231_ENST00000258173.6_Missense_Mutation_p.G200W|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000565067.1_Missense_Mutation_p.G152W	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGGCTGGTCCCGTTGATCACG	0.582000													4	43					0.00024832	0.000267422	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129712724	129712724	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:129712724G>C	ENST00000421865.2	+	36	5209	c.5160G>C	c.(5158-5160)gaG>gaC	p.E1720D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1720	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCAGAAAGAGATTGACCAGA	0.378000													4	77					0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143955984	143955984	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:143955984C>A	ENST00000493325.1	-	1	831	c.738G>T	c.(736-738)gtG>gtT	p.V246V	RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGAGTCCAATCACACAGAGGT	0.458000													45	237					5.20837e-25	7.31388e-25	1	1	0
GRID2	2895	broad.mit.edu	37	4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:94411879G>A	ENST00000282020.4	+	12	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_ENST00000510992.1_Missense_Mutation_p.A555T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	650					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)	ATCTTACACGGCAAACCTCGC	0.438000													10	52					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64709219	64709219	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:64709219C>G	ENST00000338957.4	+	1	605	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L169V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	169							endonuclease activity|nucleic acid binding|zinc ion binding	p.L116I(1)|p.L30I(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAATTGTCTCTTGAAGATGA	0.443000													11	49					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333864	37333864	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:37333864G>A	ENST00000262825.5	+	14	2249	c.2032G>A	c.(2032-2034)Gga>Aga	p.G678R	CSF2RB_ENST00000536485.1_Missense_Mutation_p.G619R|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G672R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G678R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	672					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGTCCGGGGGAGGCCCTGC	0.672000													6	9					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29404682	29404682	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:29404682C>A	ENST00000320081.5	+	16	2296	c.2041C>A	c.(2041-2043)Cat>Aat	p.H681N	CLIP4_ENST00000404424.1_Missense_Mutation_p.H681N|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	681	CAP-Gly 3.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAAGCCGAACCATGGAGTCTT	0.448000													63	85					2.23399e-28	3.18551e-28	1	1	0
SGSM3	27352	broad.mit.edu	37	22	40798188	40798188	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:40798188G>T	ENST00000248929.9	+	4	325	c.136G>T	c.(136-138)Ggt>Tgt	p.G46C	SGSM3_ENST00000454798.2_5'UTR	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	46					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CGATGAGTTTGGTTTCCGTGT	0.498000													14	67					7.93312e-07	9.04963e-07	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76751702	76751702	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:76751702C>A	ENST00000369950.3	-	2	398	c.209G>T	c.(208-210)aGa>aTa	p.R70I	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	70					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAATGCGGATCTTTTTGTTCG	0.373000													23	34					3.62473e-10	4.47761e-10	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55494012	55494012	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:55494012G>C	ENST00000543010.1	+	6	1089	c.946G>C	c.(946-948)Gtc>Ctc	p.V316L	NLRP2_ENST00000537859.1_Missense_Mutation_p.V294L|NLRP2_ENST00000263437.6_Missense_Mutation_p.V313L|NLRP2_ENST00000391721.4_Missense_Mutation_p.V292L|NLRP2_ENST00000427260.2_Missense_Mutation_p.V293L|NLRP2_ENST00000538819.1_Missense_Mutation_p.V292L|NLRP2_ENST00000448584.2_Missense_Mutation_p.V316L|NLRP2_ENST00000339757.7_Missense_Mutation_p.V294L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	316	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCGGTGCCCGTCCTCCTGGG	0.637000													11	47					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090889	143090889	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:143090889C>T	ENST00000367603.2	-	5	5729	c.4987G>A	c.(4987-4989)Gcc>Acc	p.A1663T	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1663T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1663T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTGAAGGTGGCCTGTTGCACA	0.463000													37	39					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435942	56435942	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:56435942T>C	ENST00000327381.5	+	3	1209	c.1109T>C	c.(1108-1110)aTg>aCg	p.M370T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	370						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATCAGCTACATGGCCGTCATC	0.587000													35	53					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772453	229772453	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:229772453A>G	ENST00000258243.2	+	4	2229	c.2093A>G	c.(2092-2094)cAa>cGa	p.Q698R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	698						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGCCATCCAAAGTTTGAGG	0.458000													24	221					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133167440	133167440	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:133167440T>C	ENST00000302334.2	+	3	769	c.680T>C	c.(679-681)aTa>aCa	p.I227T	RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	227	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGTCAAATAGAAAGTCTG	0.438000													32	19					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49201242	49201242	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:49201242C>A	ENST00000321895.6	-	2	506	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	134										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCATGCTTGGCAAGGGCTGGT	0.617000													9	27					9.70103e-10	1.19199e-09	1	1	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859287	149859287	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:149859287G>T	ENST00000331128.3	-	1	179	c.180C>A	c.(178-180)acC>acA	p.T60T		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	60					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GAATTTCCGCGGTCAGGTACT	0.662000													45	45					2.24893e-16	2.99426e-16	1	1	0
IFNGR2	3460	broad.mit.edu	37	21	34787228	34787228	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:34787228C>A	ENST00000290219.6	+	2	755	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	IFNGR2_ENST00000405436.1_5'UTR|IFNGR2_ENST00000381995.1_Missense_Mutation_p.P55Q	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	36	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCTCAGCACCCGAAGATTCGC	0.527000													18	30					9.16793e-09	1.10302e-08	1	1	0
SNX9	51429	broad.mit.edu	37	6	158359775	158359775	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:158359775G>A	ENST00000392185.3	+	16	1815	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	548	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTTACGCGTTGCAAGGTAAGA	0.413000													61	95					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14958426	14958426	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrY:14958426T>C	ENST00000338981.3	+	40	7682	c.6737T>C	c.(6736-6738)aTg>aCg	p.M2246T	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2246					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCATCAACAATGCAGTCTTCA	0.363000													10	7					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180324349	180324349	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:180324349C>G	ENST00000412756.2	+	9	1199	c.1130C>G	c.(1129-1131)gCa>gGa	p.A377G	TTC14_ENST00000382584.4_Missense_Mutation_p.A377G|TTC14_ENST00000296015.4_Missense_Mutation_p.A377G	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	377							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CACAGAAATGCAAGAAAATAC	0.363000													8	170					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40693136	40693136	+	Silent	SNP	C	C	T	rs115888189	byFrequency	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:40693136C>T	ENST00000225927.2	+	5	1034	c.933C>T	c.(931-933)gcC>gcT	p.A311A	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	311						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TCTATGGGGCCGACACTTTCA	0.572000													11	85					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522816	23522816	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:23522816C>A	ENST00000296682.3	+	8	886	c.704C>A	c.(703-705)cCc>cAc	p.P235H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGGGCACCCCAACCGTTCA	0.562000										HNSCC(3;0.000094)			20	27					2.94398e-08	3.51452e-08	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332494	22332494	+	RNA	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:22332494T>A	ENST00000558896.1	+	0	301																											TTTCTCTTATTACTATTTTTG	0.378000													34	141					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94776143	94776143	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:94776143T>C	ENST00000453321.3	+	4	538	c.480T>C	c.(478-480)ttT>ttC	p.F160F	TMEM67_ENST00000409623.3_Silent_p.F79F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	160					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAAACTCTTTTATGGTAGTAA	0.333000													5	45					0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124456711	124456711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:124456711G>T	ENST00000232607.2	+	3	713	c.607G>T	c.(607-609)Gag>Tag	p.E203*	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Nonsense_Mutation_p.E25*|UMPS_ENST00000413078.2_Nonsense_Mutation_p.E25*|UMPS_ENST00000536109.1_Nonsense_Mutation_p.E111*	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	203	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GTTTATTCAGGAGAATGTCTT	0.473000													9	25					2.17888e-05	2.42564e-05	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88423574	88423574	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:88423574G>T	ENST00000297203.2	-	2	868	c.683C>A	c.(682-684)aCa>aAa	p.T228K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	228										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTTTATAAATGTTGCCGGGTC	0.448000													22	44					1.28384e-07	1.5016e-07	1	1	0
BRD8	10902	broad.mit.edu	37	5	137488417	137488417	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:137488417T>C	ENST00000254900.5	-	21	2981	c.2610A>G	c.(2608-2610)gaA>gaG	p.E870E		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	870					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATGATCTTGTTCAGAATCCA	0.453000													18	102					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108373046	108373046	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:108373046C>A	ENST00000361582.3	+	19	2318	c.2088C>A	c.(2086-2088)caC>caA	p.H696Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	696					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAAATCCACACTCAGTCAGTA	0.383000													7	100					1.06961e-07	1.26384e-07	1	1	0
RAB27A	5873	broad.mit.edu	37	15	55516120	55516120	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:55516120T>A	ENST00000396307.2	-	5	685	c.434A>T	c.(433-435)gAg>gTg	p.E145V	RAB27A_ENST00000336787.1_Missense_Mutation_p.E145V|RAB27A_ENST00000569493.1_Missense_Mutation_p.E145V|RAB27A_ENST00000564609.1_Missense_Mutation_p.E145V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	145					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GGCTTCCTCCTCTTTCACTAC	0.398000													26	140					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058287	140058287	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:140058287C>T	ENST00000371561.3	+	18	3617	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	GRIN1_ENST00000371553.3_Silent_p.H861H|GRIN1_ENST00000371550.4_Silent_p.H840H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.H840H|GRIN1_ENST00000371559.4_Silent_p.H840H|GRIN1_ENST00000371555.4_Silent_p.H861H|GRIN1_ENST00000371546.4_Silent_p.H861H|GRIN1_ENST00000315048.3_Silent_p.H840H|GRIN1_ENST00000371560.3_Silent_p.H861H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	840					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACAAGCGGCACAAGGATGCTC	0.627000													7	102					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906251	144906251	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:144906251G>C	ENST00000370490.1	+	1	6563	c.2308G>C	c.(2308-2310)Ggc>Cgc	p.G770R	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G770R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G770R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G770R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G770R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	770						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCAGCGCAGGCCTAGTCCA	0.458000													15	91					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872961	15872961	+	Silent	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:15872961C>G	ENST00000285670.2	-	7	1035	c.861G>C	c.(859-861)gtG>gtC	p.V287V	SAMSN1_ENST00000400564.1_Silent_p.V51V|SAMSN1_ENST00000400566.1_Silent_p.V219V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	219	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AGATGACATCCACATAAATGA	0.408000													20	57					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102663440	102663440	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:102663440G>T	ENST00000315274.6	-	7	996	c.929C>A	c.(928-930)cCg>cAg	p.P310Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	310	Hemopexin-like 1.				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)		CTCAACTTCCGGGTAGAAGGG	0.428000													23	35					3.08376e-08	3.6719e-08	1	1	0
VIL1	7429	broad.mit.edu	37	2	219299411	219299411	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:219299411T>A	ENST00000248444.5	+	14	1751	c.1663T>A	c.(1663-1665)Tat>Aat	p.Y555N	VIL1_ENST00000392114.2_Missense_Mutation_p.Y244N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	555	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTGCTGCTATCTATGGTG	0.577000													32	27					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515373	26515373	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:26515373A>C	ENST00000531191.1	+	19	2034	c.1027A>C	c.(1027-1029)Atg>Ctg	p.M343L	CNKSR1_ENST00000374253.5_Missense_Mutation_p.M608L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.M601L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	608	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTCTTTCATGCGGCGCAA	0.647000													4	91					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758118	141758118	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:141758118A>G	ENST00000475668.2	+	31	3863	c.3809A>G	c.(3808-3810)cAg>cGg	p.Q1270R	MGAM_ENST00000549489.2_Missense_Mutation_p.Q1270R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1270	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGCTGCCCAGATCCCTTAT	0.483000													12	219					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891894	44891894	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:44891894C>A	ENST00000330997.4	-	4	577	c.513G>T	c.(511-513)atG>atT	p.M171I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.M178I|ZNF285_ENST00000544719.2_Missense_Mutation_p.M171I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATTTCTCTTCCATGTAAATTC	0.478000													39	38					2.45108e-15	3.24469e-15	1	1	0
EXOC3L2	90332	broad.mit.edu	37	19	45735052	45735052	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:45735052C>G	ENST00000413988.1	-	2	99	c.59G>C	c.(58-60)gGt>gCt	p.G20A	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.G20A	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	20										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ATCCTCCAAACCCCGCAGGGT	0.607000													25	32					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74309071	74309071	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:74309071C>T	ENST00000395792.2	+	6	723	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AFP_ENST00000226359.2_Missense_Mutation_p.T208I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	208	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGGCAGCAACAGTTACAAAA	0.323000									Alpha-Fetoprotein, Hereditary Persistence of				12	33					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62237966	62237966	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:62237966T>G	ENST00000261517.5	-	45	5169	c.5096A>C	c.(5095-5097)aAa>aCa	p.K1699T	VPS13C_ENST00000395896.4_Missense_Mutation_p.K1699T|VPS13C_ENST00000249837.3_Missense_Mutation_p.K1656T|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1656T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1699					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACAACCCACTTTAAAACTAAG	0.353000													23	144					0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107002842	107002842	+	RNA	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:107002842A>G	ENST00000484422.1	+	0	74																											GTGCAGCAAAATGTGAGGAGG	0.453000													35	141					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603285	64603285	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:64603285C>A	ENST00000342711.5	-	14	1706	c.1707G>T	c.(1705-1707)acG>acT	p.T569T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	569					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTGCAGCTGCGTCACCTGCC	0.667000													16	16					4.7546e-09	5.73532e-09	1	1	0
SULT1C2	6819	broad.mit.edu	37	2	108924878	108924878	+	Silent	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:108924878A>G	ENST00000326853.5	+	9	1335	c.882A>G	c.(880-882)agA>agG	p.R294R	SULT1C2_ENST00000251481.6_Silent_p.R283R|SULT1C2_ENST00000437390.2_Silent_p.R297R|SULT1C2_ENST00000409880.1_Silent_p.R246R	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	283					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTATAGAAGAAAGATGGAAG	0.408000													21	54					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20940826	20940826	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:20940826C>A	ENST00000298925.5	+	8	942	c.789C>A	c.(787-789)agC>agA	p.S263R	NELL1_ENST00000357134.5_Missense_Mutation_p.S235R|NELL1_ENST00000325319.5_Missense_Mutation_p.S178R|NELL1_ENST00000532434.1_Missense_Mutation_p.S235R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	235					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTTCTTAAGCCTGGTGCAAG	0.299000													5	55					1.23904e-05	1.38604e-05	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62390923	62390923	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:62390923G>T	ENST00000281156.4	-	9	1273	c.995C>A	c.(994-996)cCa>cAa	p.P332Q	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTTTGCGGTGGTGCCTTCAA	0.483000													5	23					0.00116845	0.00124383	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47426704	47426704	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:47426704C>T	ENST00000426342.1	-	9	1814	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	MDGA2_ENST00000439988.2_Silent_p.T585T|MDGA2_ENST00000357362.3_Silent_p.T356T|MDGA2_ENST00000399232.2_Silent_p.T654T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	585	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CAAATTGACCCGTCCGTAATA	0.443000													34	56					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503738	105503738	+	Silent	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:105503738C>G	ENST00000276654.5	-	7	1851	c.1743G>C	c.(1741-1743)gcG>gcC	p.A581A	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.A562A	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	581					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATCGTACCGCTAGCCTCA	0.358000													5	57					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63855163	63855163	+	Silent	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:63855163A>G	ENST00000268049.7	+	9	975	c.651A>G	c.(649-651)ccA>ccG	p.P217P	USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Silent_p.P150P|USP3_ENST00000558285.1_Silent_p.P222P|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Silent_p.P195P|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Silent_p.P239P|USP3-AS1_ENST00000560350.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	239					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CATTTAGCCCAGAGTCCTTAT	0.363000													51	75					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22233539	22233539	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:22233539T>A	ENST00000344041.6	-	10	962	c.650A>T	c.(649-651)cAt>cTt	p.H217L	RAPGEF5_ENST00000405243.1_Missense_Mutation_p.H370L|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCACCTCCAATGGCTCTCCGC	0.597000													54	171					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25478944	25478944	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:25478944C>A	ENST00000278886.6	-	9	1144	c.1071G>T	c.(1069-1071)ctG>ctT	p.L357L	NINL_ENST00000422516.1_Silent_p.L357L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	357					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGTCAGCTCCAGAAGGTTCA	0.602000													3	25					6.4e-05	7.04e-05	1	1	0
PPP1R18	170954	broad.mit.edu	37	6	30647078	30647078	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:30647078G>C	ENST00000274853.3	-	2	3576	c.1700C>G	c.(1699-1701)cCt>cGt	p.P567R	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.P567R	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	567						cytoplasm|cytoskeleton	actin binding										GGGGACCTCAGGCTCCGGGCC	0.637000													19	17					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99483677	99483677	+	Silent	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:99483677G>C	ENST00000376460.1	-	41	4571	c.4491C>G	c.(4489-4491)tcC>tcG	p.S1497S	DOCK9_ENST00000339416.2_Silent_p.S1498S|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1498					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAGCAGCTGGGAGGCCTCCG	0.488000													3	11					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183227	18183227	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:18183227C>T	ENST00000380033.4	-	14	2434	c.2302G>A	c.(2302-2304)Gct>Act	p.A768T		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	768								p.A768P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTGGCTTCAGCCCTTCTGACG	0.552000													4	139					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333322	28333322	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:28333322G>A	ENST00000377255.3	+	7	1174	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E145K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E293K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	293					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TACATGTGCAGAAGCTGGTGA	0.517000													18	44					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462853	224462853	+	Missense_Mutation	SNP	C	C	A	rs139176325		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:224462853C>A	ENST00000305409.2	-	2	1380	c.1148G>T	c.(1147-1149)cGg>cTg	p.R383L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	383					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTCAAGCTCCCGCTCCGGTTC	0.483000													9	61					3.09899e-07	3.60638e-07	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36050122	36050122	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:36050122A>C	ENST00000379919.4	-	1	710	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	52					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GAGCTGATGAACCGCGGCTCC	0.517000													25	64					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721166	721166	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:721166G>A	ENST00000315082.4	+	11	946	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	278					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			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGGCTACAGCGATGCCCTGGA	0.637000													13	76					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474134	28474134	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:28474134C>G	ENST00000361902.1	-	3	363	c.314G>C	c.(313-315)gGa>gCa	p.G105A	GPX6_ENST00000474923.1_Missense_Mutation_p.G105A|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	105					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCTTGTTTTCCAAACTGGTT	0.463000													4	36					0	0	1	0	0
CBX3	11335	broad.mit.edu	37	7	26245992	26245992	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:26245992A>C	ENST00000337620.4	+	3	457	c.29A>C	c.(28-30)aAa>aCa	p.K10T	CBX3_ENST00000409747.1_Missense_Mutation_p.K10T|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Missense_Mutation_p.K10T	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	10					chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTTTAGCAAAAAATGGGAAAA	0.323000													6	24					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247011	43247011	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:43247011C>A	ENST00000255226.6	+	13	2485	c.1669C>A	c.(1669-1671)Ctc>Atc	p.L557I	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L557I|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L34I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	557						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCAAAGCCCTCAGCTACAT	0.473000													7	45					8.12818e-05	8.91977e-05	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5791845	5791845	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:5791845G>T	ENST00000328090.5	+	15	7086	c.6461G>T	c.(6460-6462)cGg>cTg	p.R2154L		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2154																	TTCCCAGGACGGTCAGCCTCC	0.423000													20	28					1.01871e-10	1.26859e-10	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134084185	134084185	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:134084185G>T	ENST00000264360.4	+	4	3677	c.2851G>T	c.(2851-2853)Gat>Tat	p.D951Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	951					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGCCACTCAGATCGGTGCTG	0.488000													18	27					2.94398e-08	3.51452e-08	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23527008	23527008	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:23527008G>A	ENST00000296682.3	+	11	1993	c.1811G>A	c.(1810-1812)gGg>gAg	p.G604E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	604					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACACAGGGGAGAAGCCC	0.602000										HNSCC(3;0.000094)			16	92					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51857347	51857347	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:51857347C>A	ENST00000251076.5	-	4	589	c.302G>T	c.(301-303)tGg>tTg	p.W101L	DMXL2_ENST00000449909.3_Missense_Mutation_p.W101L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W101L|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	101						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTTTTAAGCCACTGGCACTT	0.289000													8	15					0.000157383	0.000171085	1	1	0
THNSL2	55258	broad.mit.edu	37	2	88478357	88478357	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:88478357G>A	ENST00000324166.5	+	4	2318	c.627G>A	c.(625-627)gtG>gtA	p.V209V	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Silent_p.V177V|THNSL2_ENST00000402102.1_Silent_p.V209V|THNSL2_ENST00000343544.4_Silent_p.V209V|THNSL2_ENST00000358591.2_Silent_p.V209V|THNSL2_ENST00000377254.3_Silent_p.V209V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	209					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TTGCCGATGTGGCTTTTGTCA	0.527000													15	113					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428748	142428748	+	RNA	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:142428748G>A	ENST00000390400.2	+	0	128																											GGACGGGAGAGAAAGTTTTTC	0.458000													4	39					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1464252	1464252	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:1464252T>C	ENST00000331035.4	+	3	457	c.108T>C	c.(106-108)gcT>gcC	p.A36A	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	36						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGCAAAGGCTCAGCAGTTGA	0.423000													11	134					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585175	86585175	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:86585175G>C	ENST00000376263.3	-	16	1486	c.1263C>G	c.(1261-1263)atC>atG	p.I421M	HNRNPK_ENST00000351839.3_Missense_Mutation_p.I421M|HNRNPK_ENST00000376264.2_Missense_Mutation_p.I421M|HNRNPK_ENST00000360384.5_Missense_Mutation_p.I421M|HNRNPK_ENST00000376281.4_Missense_Mutation_p.I421M	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	421	2 X 22 AA approximate repeats.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CATCAATTTTGATCGAAGCTC	0.408000													7	48					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102580025	102580025	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:102580025C>T	ENST00000249377.4	+	3	1202	c.921C>T	c.(919-921)atC>atT	p.I307I	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Silent_p.I307I|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	307					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTGAATTCATCGATCCTGGTA	0.373000													6	124					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14591086	14591086	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:14591086A>G	ENST00000544627.1	+	5	2158	c.1838A>G	c.(1837-1839)gAa>gGa	p.E613G	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E604G|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E604G|ATF7IP_ENST00000540793.1_Missense_Mutation_p.E605G|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E605G			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	605	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGCTGGAAGAAAAATTGTGT	0.348000													6	11					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046222	73046222	+	RNA	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:73046222G>C	ENST00000604411.1	+	0	34183				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATACTGACTGGATTTTGGTGT	0.388000													13	10					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390486	197390486	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:197390486A>G	ENST00000367400.3	+	6	1663	c.1528A>G	c.(1528-1530)Ata>Gta	p.I510V	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.I441V|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.I510V|CRB1_ENST00000543483.1_Missense_Mutation_p.I209V|CRB1_ENST00000367399.2_Missense_Mutation_p.I398V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	510	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTTTGTAACATAGCCCTCAG	0.498000													5	53					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83451695	83451695	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:83451695T>A	ENST00000334574.8	-	4	999	c.818A>T	c.(817-819)aAa>aTa	p.K273I	FSD2_ENST00000541889.1_Missense_Mutation_p.K273I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	273										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGCTTGTATTTTTTCCTCATA	0.383000													15	187					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014964	53014964	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53014964C>A	ENST00000421239.2	+	6	1574	c.1330C>A	c.(1330-1332)Cgt>Agt	p.R444S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGCCTTGCACGTCATCATAG	0.378000													13	56					0.000151284	0.000165233	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47532001	47532001	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr21:47532001C>T	ENST00000300527.4	+	3	328	c.224C>T	c.(223-225)cCg>cTg	p.P75L	COL6A2_ENST00000310645.5_Missense_Mutation_p.P75L|COL6A2_ENST00000397763.1_Missense_Mutation_p.P75L|COL6A2_ENST00000409416.1_Missense_Mutation_p.P75L|COL6A2_ENST00000357838.4_Missense_Mutation_p.P75L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTTCGTGCCGCAGTTCATC	0.612000													10	46					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729135	51729135	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:51729135G>T	ENST00000436584.2	+	2	169	c.114G>T	c.(112-114)gtG>gtT	p.V38V	CD33_ENST00000421133.2_Silent_p.V38V|CD33_ENST00000262262.4_Silent_p.V165V|CD33_ENST00000391796.3_Silent_p.V165V			P20138	CD33_HUMAN	CD33 molecule	165	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCTGCTCTGTGTCCTGGGCCT	0.592000													33	70					2.46105e-21	3.37391e-21	1	1	0
PPP1R1B	84152	broad.mit.edu	37	17	37791870	37791870	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:37791870G>T	ENST00000254079.4	+	6	925	c.456G>T	c.(454-456)aaG>aaT	p.K152N	PPP1R1B_ENST00000580825.1_Missense_Mutation_p.K152N|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.K119N|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.K116N|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.K116N	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	152					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGGCAAAAGACAACCTGTG	0.587000													56	741					4.17328e-34	6.02518e-34	1	1	0
DHDDS	79947	broad.mit.edu	37	1	26795572	26795572	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:26795572G>C	ENST00000360009.2	+	9	1032	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	DHDDS_ENST00000236342.7_Missense_Mutation_p.E318Q|DHDDS_ENST00000526219.1_Missense_Mutation_p.E279Q|DHDDS_ENST00000525682.2_Missense_Mutation_p.E284Q	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	318							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCAGGCCTTGGAACTCAAGCG	0.652000													14	39					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619655	619655	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:619655G>A	ENST00000255622.6	+	1	283	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PDE6B_ENST00000496514.1_Silent_p.L80L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	80	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCAAGGTCCTGCGGCGCCTCT	0.662000													3	9					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309625	89309625	+	RNA	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:89309625G>T	ENST00000493819.1	-	0	262																											GCATAGATCAGGAGCTTAGGG	0.522000													107	129					2.76928e-52	4.03599e-52	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52497340	52497340	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:52497340C>T	ENST00000261839.7	-	38	4703	c.4542G>A	c.(4540-4542)ccG>ccA	p.P1514P	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1514	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCAGCATTCCCGGAACTGCGG	0.587000													4	75					0	0	1	0	0
TRAV16	28667	broad.mit.edu	37	14	22458944	22458944	+	RNA	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:22458944C>G	ENST00000390444.1	+	0	96																											TCCTCTCTGTCTTTAAAGGGG	0.488000													13	13					0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37761975	37761975	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:37761975G>C	ENST00000302584.4	-	2	1098	c.878C>G	c.(877-879)tCc>tGc	p.S293C		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	293					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CTCGTACTCGGAGCTGTTGTA	0.677000													9	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152702370	152702370	+	Missense_Mutation	SNP	C	C	A	rs148998248	by1000genomes	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:152702370C>A	ENST00000367255.5	-	56	9381	c.8780G>T	c.(8779-8781)cGt>cTt	p.R2927L	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.R2934L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2966L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R2934L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R2927L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2927					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGTCGGCACGCAGGGCCTG	0.577000										HNSCC(10;0.0054)			8	69					0.000157383	0.000171085	1	1	0
ESR1	2099	broad.mit.edu	37	6	152265640	152265640	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:152265640C>A	ENST00000440973.1	+	6	1463	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ESR1_ENST00000443427.1_Missense_Mutation_p.P365T|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Missense_Mutation_p.P192T|ESR1_ENST00000206249.3_Missense_Mutation_p.P365T|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Missense_Mutation_p.P365T|ESR1_ENST00000456483.2_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	365	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GAAGAGGGTGCCAGGTAAGAA	0.473000													5	44					3.59834e-05	3.96762e-05	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	125900196	125900196	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:125900196T>A	ENST00000299308.3	+	3	1072	c.1064T>A	c.(1063-1065)aTg>aAg	p.M355K		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	355						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTCACCTGCATGGGCCATCGC	0.587000													18	33					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192127	125192127	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:125192127G>A	ENST00000431078.1	+	5	960	c.596G>A	c.(595-597)aGt>aAt	p.S199N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	199	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGTTGATGAGTACTCTCAAA	0.463000													15	43					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955884	37955884	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:37955884T>A	ENST00000436072.2	-	1	633	c.256A>T	c.(256-258)Acc>Tcc	p.T86S	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	86	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AACTCCAGGGTGCAAATGGGC	0.617000													11	55					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729133	22729133	+	RNA	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:22729133A>T	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCAGGTCACGGGCCAGCT	0.473000													80	115					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959845	53959845	+	RNA	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:53959845G>T	ENST00000454407.1	+	0	2537							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGTAATGAGTGTGGCAAGAAC	0.388000													46	56					5.48756e-27	7.77685e-27	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113330186	113330186	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:113330186G>A	ENST00000263331.5	+	13	2702	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	POLR1B_ENST00000409894.3_Missense_Mutation_p.D525N|POLR1B_ENST00000541869.1_Missense_Mutation_p.D746N|POLR1B_ENST00000417433.2_Missense_Mutation_p.D652N|POLR1B_ENST00000537335.1_Missense_Mutation_p.D497N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	708					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGACCGATCGGATAACAAACT	0.403000													23	47					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747932	71747932	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:71747932C>A	ENST00000258104.3	+	11	1228	c.951C>A	c.(949-951)ctC>ctA	p.L317L	DYSF_ENST00000409366.1_Silent_p.L318L|DYSF_ENST00000409762.1_Silent_p.L348L|DYSF_ENST00000409582.3_Silent_p.L348L|DYSF_ENST00000409651.1_Silent_p.L349L|DYSF_ENST00000409744.1_Silent_p.L318L|DYSF_ENST00000394120.2_Silent_p.L318L|DYSF_ENST00000410041.1_Silent_p.L349L|DYSF_ENST00000410020.3_Silent_p.L349L|DYSF_ENST00000413539.2_Silent_p.L348L|DYSF_ENST00000429174.2_Silent_p.L317L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	317						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L317L(1)|p.L349L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACGCCTATCTCAGGAAGTGGC	0.587000													45	48					5.73435e-26	8.07704e-26	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1920986	1920986	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:1920986G>T	ENST00000399161.2	-	11	2356	c.1609C>A	c.(1609-1611)Cct>Act	p.P537T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P535T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	537					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTCTGGAGGGACCCTATCT	0.567000													65	137					2.23399e-28	3.18551e-28	1	1	0
C2orf53	339779	broad.mit.edu	37	2	27360930	27360930	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:27360930A>T	ENST00000335524.3	-	3	793	c.268T>A	c.(268-270)Tct>Act	p.S90T		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	90	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGAGAGAGGGAGAATAG	0.577000													20	28					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987524	7987524	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:7987524C>T	ENST00000221573.6	+	5	931	c.880C>T	c.(880-882)Cca>Tca	p.P294S	SNAPC2_ENST00000597584.1_Missense_Mutation_p.P57S	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	294					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGAGACCCCCCCAGCCACCGA	0.672000													16	53					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33828899	33828899	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:33828899G>A	ENST00000261326.5	+	10	1996	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	659					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGAGCCTATAGAGGTGCCTCT	0.388000													11	43					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62475423	62475423	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:62475423G>A	ENST00000541428.1	-	18	1390	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	ASPH_ENST00000379454.4_Silent_p.S439S	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	439					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGGTAAGCAGGGAACCTCTCA	0.358000													20	36					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444285	15444285	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:15444285A>C	ENST00000295297.4	+	3	1012	c.753A>C	c.(751-753)gaA>gaC	p.E251D	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E244D|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.E244D	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	244	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAGAAGATGAAGTCTGGCTGG	0.498000													7	77					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459152	100459152	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:100459152G>T	ENST00000354161.3	+	11	1607	c.1482G>T	c.(1480-1482)gcG>gcT	p.A494A	SLC12A9_ENST00000428758.1_Silent_p.A494A|SLC12A9_ENST00000415287.1_Silent_p.A405A|SLC12A9_ENST00000275729.3_Silent_p.A405A|SLC12A9_ENST00000540482.1_Silent_p.A494A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	494						integral to membrane|plasma membrane	cation:chloride symporter activity	p.A494A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCACCGCGCGAGGAGGCC	0.652000													40	43					2.87052e-16	3.81086e-16	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31794041	31794041	+	Splice_Site	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:31794041C>G	ENST00000382902.1	-	8	1115	c.1021_splice	c.e8-1	p.A341_splice	OTUD7A_ENST00000307050.4_Splice_Site_p.A334_splice			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	334	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.A334A(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGGGTGCGAACGCTGTGGACA	0.632000													26	36					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849810	73849810	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:73849810C>T	ENST00000523207.1	+	3	2808	c.2220C>T	c.(2218-2220)acC>acT	p.T740T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	740					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCCAGTCACCACAGCTGACT	0.552000													63	147					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89885504	89885504	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:89885504C>T	ENST00000534061.1	+	6	878	c.648C>T	c.(646-648)atC>atT	p.I216I	NAALAD2_ENST00000375944.3_Silent_p.I216I|NAALAD2_ENST00000321955.4_Silent_p.I216I|NAALAD2_ENST00000525171.1_Silent_p.I216I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	216					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAGGAATCATCTTGTACTCAG	0.438000													5	21					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37356934	37356934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:37356934G>A	ENST00000336755.5	+	9	1407	c.1301G>A	c.(1300-1302)tGg>tAg	p.W434*	ZCCHC7_ENST00000534928.1_Nonsense_Mutation_p.W144*|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	434							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CGTGCCTCATGGAAAAGCAAC	0.433000													21	9					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955647	107955647	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:107955647A>T	ENST00000317357.5	+	6	2258	c.1599A>T	c.(1597-1599)ctA>ctT	p.L533L		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	533	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCGTGCCCCTACCGGTGCCCA	0.667000													15	20					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729448	42729448	+	Missense_Mutation	SNP	C	C	G	rs3810150		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:42729448C>G	ENST00000301215.3	+	3	1118	c.893C>G	c.(892-894)cCg>cGg	p.P298R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCTCACAGCCCGGCATCTGCC	0.697000													11	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	10					1.17739e-12	1.53227e-12	1	1	0
CEP120	153241	broad.mit.edu	37	5	122718431	122718431	+	Splice_Site	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:122718431C>A	ENST00000306467.5	-	13	2317	c.2013_splice	c.e13+1	p.Q671_splice	CEP120_ENST00000306481.6_Splice_Site_p.Q645_splice|CEP120_ENST00000328236.5_Splice_Site_p.Q671_splice			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	671						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAAAAGTAACCTGATTTTCAA	0.363000													4	14					0.150653	0.152302	1	1	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291796	65291796	+	RNA	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:65291796G>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							CAAGAGCGGAGCCTACGGCTG	0.483000													4	7					0.184627	0.185834	1	1	0
UTRN	7402	broad.mit.edu	37	6	145142116	145142116	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:145142116G>A	ENST00000367545.3	+	65	9456	c.9456G>A	c.(9454-9456)ctG>ctA	p.L3152L	UTRN_ENST00000367526.4_Silent_p.L707L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3152	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGGTTACCTGCCTGTCCAGA	0.378000													32	22					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118583388	118583388	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:118583388C>G	ENST00000336338.5	-	22	3196	c.3131G>C	c.(3130-3132)gGg>gCg	p.G1044A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1044						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCAATCTGCCCCCCATCAGA	0.363000													4	46					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824320	54824320	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:54824320G>A	ENST00000243911.2	+	1	533	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	178					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATCGCCGTCGACAGGTACGT	0.577000													5	75					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680766	30680766	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:30680766C>A	ENST00000356166.6	+	18	3831	c.2743C>A	c.(2743-2745)Ctc>Atc	p.L915I	FBRS_ENST00000568722.1_Missense_Mutation_p.L307I|FBRS_ENST00000287468.5_Missense_Mutation_p.L395I|FBRS_ENST00000395073.2_Missense_Mutation_p.L307I			Q9HAH7	FBRS_HUMAN	fibrosin	395										ovary(1)	1			Colorectal(24;0.103)			CGCTGCCCGCCTCTACGGTCT	0.682000													34	153					2.68265e-12	3.46197e-12	1	1	0
GYG1	2992	broad.mit.edu	37	3	148714198	148714198	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:148714198A>G	ENST00000345003.4	+	3	553	c.253A>G	c.(253-255)Aca>Gca	p.T85A	GYG1_ENST00000484197.1_Missense_Mutation_p.T85A|GYG1_ENST00000483267.1_Missense_Mutation_p.T85A|GYG1_ENST00000296048.6_Missense_Mutation_p.T85A	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	85					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTCACGCTGACAAAGCTCCA	0.448000													43	140					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95518019	95518019	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:95518019C>A	ENST00000371418.4	+	1	378	c.118C>A	c.(118-120)Cca>Aca	p.P40T	LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Missense_Mutation_p.P40T|LGI1_ENST00000371413.3_Missense_Mutation_p.P40T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	40	LRRNT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ACCAGCGAAGCCAAAATGCCC	0.448000													25	67					3.01185e-09	3.67144e-09	1	1	0
ZHX1	11244	broad.mit.edu	37	8	124265876	124265876	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:124265876T>C	ENST00000395571.3	-	3	2928	c.2311A>G	c.(2311-2313)Agg>Ggg	p.R771G	ZHX1_ENST00000522655.1_Missense_Mutation_p.R771G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.R771G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	771					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGGTCCCCTGTCCCAGTTG	0.453000													90	114					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468149	52468149	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52468149G>A	ENST00000243644.4	-	5	1784	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	519					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AATTGATCACGGAAGGCACAA	0.408000													14	48					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16630505	16630505	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:16630505A>T	ENST00000546361.2	-	16	2635	c.2484T>A	c.(2482-2484)tcT>tcA	p.S828S	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000198939.6_Silent_p.S839S	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	828					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCGCCGAATTAGAACCCAGAC	0.502000													43	41					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100374776	100374776	+	Splice_Site	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:100374776C>G	ENST00000370552.3	-	9	1265		c.e9-1		HPSE2_ENST00000404542.1_Splice_Site|HPSE2_ENST00000370546.1_Splice_Site|HPSE2_ENST00000370549.1_Splice_Site	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2						carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GTTCAACCATCTAAAAGGCAG	0.388000													4	59					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791949	37791949	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:37791949G>A	ENST00000254079.4	+	6	1004	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E179K|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E146K|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E143K|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E143K	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	179					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGAGGCTCTGAGGACCAAGT	0.632000													42	472					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059654	248059654	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:248059654A>G	ENST00000537741.1	+	3	1023	c.766A>G	c.(766-768)Atc>Gtc	p.I256V	OR2W3_ENST00000360358.3_Missense_Mutation_p.I256V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAAACATCATCTACATGTA	0.527000													4	85					0	0	1	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730775	22730775	+	RNA	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:22730775C>T	ENST00000390296.2	+	0	298																											TCTCTGGATCCAAAGATGCTT	0.532000													9	192					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970558	160970558	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:160970558T>C	ENST00000368026.6	-	4	525	c.251A>G	c.(250-252)gAg>gGg	p.E84G	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	84	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACCCGGTCCTCATAGGAAGC	0.542000													4	52					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110667554	110667554	+	Missense_Mutation	SNP	T	T	A	rs121964912		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:110667554T>A	ENST00000394634.2	-	11	1460	c.1253A>T	c.(1252-1254)cAt>cTt	p.H418L	CFI_ENST00000394635.3_Missense_Mutation_p.H426L|CFI_ENST00000512148.1_Missense_Mutation_p.H411L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	418	Peptidase S1.		H -> L (in CFI deficiency).		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTAGTTTTCATGGAAAATAAT	0.373000													30	14					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68217251	68217251	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:68217251C>T	ENST00000349223.5	+	8	2304	c.2080C>T	c.(2080-2082)Cgt>Tgt	p.R694C	NFATC3_ENST00000575270.1_Missense_Mutation_p.R694C|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.R694C|NFATC3_ENST00000329524.4_Missense_Mutation_p.R694C	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	694					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.R694C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCAGTCTCAACGTTTTACTTA	0.383000													45	23					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571094	167571094	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:167571094T>A	ENST00000366834.1	-	1	723	c.226A>T	c.(226-228)Agc>Tgc	p.S76C		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	76						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GCCTGGAGGCTCAGGTAGAAG	0.677000													6	28					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544328	154544328	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:154544328G>T	ENST00000368476.3	+	5	1293	c.1029G>T	c.(1027-1029)ctG>ctT	p.L343L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	343					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TGGAGAAGCTGCCCGCGCTGC	0.687000													3	20					0.004672	0.00487238	1	1	0
SLC2A6	11182	broad.mit.edu	37	9	136339125	136339125	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr9:136339125C>T	ENST00000371899.4	-	7	1090	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	SLC2A6_ENST00000371897.4_Missense_Mutation_p.R338H|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	338						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CAGCACCTTGCGGCCTGCGAG	0.692000													7	13					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919519	4919519	+	Silent	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:4919519C>A	ENST00000433855.1	+	1	1178	c.312C>A	c.(310-312)ggC>ggA	p.G104G	KCNA6_ENST00000280684.3_Silent_p.G104G	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	104						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGTCTGGGGGCCGCCTGCGGA	0.662000										HNSCC(72;0.22)			42	69					2.54354e-34	3.68375e-34	1	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2306775	2306775	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:2306775G>T	ENST00000290974.2	-	8	1631	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A361D|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A401D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	431					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGGGGGTCGGCCCAGGTACT	0.662000													28	24					4.59853e-10	5.66539e-10	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731248	21731248	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:21731248G>T	ENST00000584755.1	+	2	947	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAAGATCCAAGATAAAGAAGG	0.527000													12	61					1.08611e-07	1.2768e-07	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22921775	22921775	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:22921775G>A	ENST00000166244.3	+	8	1728	c.1656G>A	c.(1654-1656)acG>acA	p.T552T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	552						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCTCATCACGGGCCTGGTGG	0.642000													5	15					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204214757	204214757	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:204214757G>A	ENST00000272203.3	-	14	2334	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T693I	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	673										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTGCTTGGCGGTGTCCGTGCC	0.607000													9	42					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188225464	188225464	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:188225464C>T	ENST00000409998.1	-	11	1423	c.642G>A	c.(640-642)gtG>gtA	p.V214V	CALCRL_ENST00000410068.1_Silent_p.V214V|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.V214V|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	214						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGAACTGGGACACTTTGCAAC	0.393000													5	35					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69456170	69456170	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:69456170C>T	ENST00000227507.2	+	1	316	c.89C>T	c.(88-90)gCc>gTc	p.A30V	CCND1_ENST00000536559.1_Missense_Mutation_p.A30V	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	30	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GTGCTGCGGGCCATGCTGAAG	0.642000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			39	2696					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181546996	181546996	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:181546996G>A	ENST00000526775.1	+	4	772	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G203R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G203R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G203R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G154R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G154R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	203					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCGTGTCAGGGATACCTAG	0.527000													7	8					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33329057	33329057	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:33329057C>A	ENST00000378526.4	+	18	2741	c.2608C>A	c.(2608-2610)Ccc>Acc	p.P870T	LIG3_ENST00000262327.5_Missense_Mutation_p.P870T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	870					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCGCAAGGCCCCCAGCAAGCC	0.557000								Other BER factors					14	15					1.5739e-10	1.95468e-10	1	1	0
PAQR7	164091	broad.mit.edu	37	1	26190068	26190068	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:26190068C>A	ENST00000374296.3	-	2	929	c.263G>T	c.(262-264)cGg>cTg	p.R88L		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	88					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCCAGCCGCAGCAGCAG	0.602000													25	46					1.64293e-13	2.15024e-13	1	1	0
DGCR2	9993	broad.mit.edu	37	22	19055625	19055625	+	Missense_Mutation	SNP	C	C	T	rs28434427		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:19055625C>T	ENST00000545799.1	-	3	516	c.316G>A	c.(316-318)Gtt>Att	p.V106I	DGCR2_ENST00000537045.1_Missense_Mutation_p.V65I|DGCR2_ENST00000263196.7_Missense_Mutation_p.V106I			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	106					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGAAGCGAACGGGCTGCGCC	0.642000													4	60					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891895	44891895	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:44891895A>T	ENST00000330997.4	-	4	576	c.512T>A	c.(511-513)aTg>aAg	p.M171K	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.M178K|ZNF285_ENST00000544719.2_Missense_Mutation_p.M171K	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTTCTCTTCCATGTAAATTCC	0.478000													39	38					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155161748	155161748	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:155161748C>T	ENST00000368395.1	-	2	456	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	MUC1_ENST00000368390.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000343256.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	909	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGGTGGAGCCCGGGGCTGGC	0.746000			T	IGH@	B-NHL								5	5					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41410718	41410718	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:41410718G>A	ENST00000551295.2	+	19	2536	c.2419_splice	c.e19+1	p.A807_splice	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Splice_Site_p.A807_splice|CNTN1_ENST00000348761.2_Splice_Site_p.A796_splice	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	807					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCACAAGACGGTAGGTGAAA	0.428000													15	36					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	85					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290843	114290843	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:114290843A>T	ENST00000297405.5	-	3	736	c.492T>A	c.(490-492)caT>caA	p.H164Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H124Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H164Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H164Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	164	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTAAATCCATGAGCACTAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	32					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378815	92378815	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:92378815T>C	ENST00000276609.3	+	14	1735	c.1496T>C	c.(1495-1497)cTg>cCg	p.L499P	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L499P|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L499P	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	499	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGGAAACCCTGCAGCAGGTG	0.313000													7	28					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052389	70052389	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:70052389G>T	ENST00000301838.4	+	2	734	c.437G>T	c.(436-438)aGa>aTa	p.R146I		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	146	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAGTCACTGAGAATCTGGAAG	0.572000													10	332					2.17888e-05	2.42564e-05	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847577	47847577	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:47847577C>A	ENST00000339488.4	-	3	1036	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	335	SSD.					integral to membrane	hedgehog receptor activity										ACCATCACATCAGAATAGGCA	0.478000													3	14					0.004672	0.00487238	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66213826	66213826	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:66213826C>A	ENST00000273854.3	-	15	3204	c.2604G>T	c.(2602-2604)atG>atT	p.M868I	EPHA5_ENST00000354839.4_Missense_Mutation_p.M846I|EPHA5_ENST00000511294.1_Missense_Mutation_p.M869I|EPHA5_ENST00000432638.2_Missense_Mutation_p.M705I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	868	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAACTTCCCACATTACTATTC	0.423000										TSP Lung(17;0.13)			31	70					3.80469e-20	5.16991e-20	1	1	0
SBK2	646643	broad.mit.edu	37	19	56041267	56041267	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:56041267A>T	ENST00000413299.1	-	4	917	c.880T>A	c.(880-882)Ttc>Atc	p.F294I	SBK2_ENST00000344158.3_Missense_Mutation_p.F294I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	294	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCAGGCCGAACCAGGGCTGA	0.741000													3	13					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81553670	81553670	+	Silent	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:81553670C>G	ENST00000327835.3	-	9	1401	c.1170G>C	c.(1168-1170)ggG>ggC	p.G390G		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	390						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GGTTCTCCATCCCGTACACCT	0.577000													3	29					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188590479	188590479	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:188590479C>T	ENST00000312675.4	+	10	1884	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A	LPP_ENST00000543006.1_Silent_p.A546A	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	546	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTATGCCAGCCCCGGGCCAGG	0.547000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	165					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4210077	4210077	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:4210077A>T	ENST00000600132.1	+	12	1169	c.893A>T	c.(892-894)aAg>aTg	p.K298M	ANKRD24_ENST00000318934.4_Missense_Mutation_p.K298M|ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Missense_Mutation_p.K388M	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	298										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCCATGGAAAGCAGGGGGCC	0.662000													3	20					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848075	7848075	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:7848075G>A	ENST00000329913.3	-	1	297	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	84					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						GGGAGAAAGCGAAGTACATTC	0.483000													6	67					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161869	2161869	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr16:2161869T>C	ENST00000262304.4	-	15	3507	c.3299A>G	c.(3298-3300)gAg>gGg	p.E1100G	PKD1_ENST00000423118.1_Missense_Mutation_p.E1100G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1100	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGAGGTACTCACCTGTGGG	0.706000													4	31					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108910	46108910	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:46108910G>T	ENST00000321037.4	+	3	1178	c.948G>T	c.(946-948)ttG>ttT	p.L316F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	316						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCATTATTTTGGTTGCCGATG	0.333000													4	32					1	1	1	1	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370158	20370158	+	RNA	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:20370158G>A	ENST00000593655.1	-	0	199																											ACAATTTTTGGATGACCCGAC	0.443000													11	33					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657248	143657248	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:143657248T>C	ENST00000392899.1	+	1	222	c.185T>C	c.(184-186)tTt>tCt	p.F62S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATGTATTTCTTTCTCACCAAC	0.502000													16	243					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667598	106667598	+	RNA	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:106667598A>T	ENST00000390606.2	-	0	395																											CAGTGATACAAGGCCGTGTCC	0.572000													54	243					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21713485	21713485	+	Splice_Site	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:21713485A>T	ENST00000358491.4	+	3	433	c.226_splice	c.e3+1	p.P75_splice	ZNF429_ENST00000597078.1_Splice_Site_p.P75_splice|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATGAACCCCCAGGTAGGTGAG	0.433000													17	25					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625630	65625630	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:65625630A>T	ENST00000327987.4	-	6	1198	c.947T>A	c.(946-948)gTg>gAg	p.V316E	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	316	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTCCTCACCCGGGTGCC	0.632000													8	34					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757783	17757783	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:17757783C>G	ENST00000379472.3	+	1	264	c.234C>G	c.(232-234)tgC>tgG	p.C78W	KCNC1_ENST00000265969.6_Missense_Mutation_p.C78W	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	78						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGCTGCACTGCCCAGCCGACG	0.652000													9	27					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113166901	113166901	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:113166901C>T	ENST00000295872.4	-	16	2669	c.2410G>A	c.(2410-2412)Ggg>Agg	p.G804R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	804					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GTATTTATCCCGCTGACGGGA	0.328000													7	72					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41004569	41004569	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:41004569C>A	ENST00000399564.4	-	37	4523	c.4073G>T	c.(4072-4074)cGc>cTc	p.R1358L	MROH2B_ENST00000506092.2_Missense_Mutation_p.R913L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GACTTCAGTGCGAGCTAGGTG	0.408000													34	50					2.80507e-11	3.55053e-11	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215259840	215259840	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:215259840G>T	ENST00000444842.2	+	2	326	c.176G>T	c.(175-177)tGg>tTg	p.W59L	KCNK2_ENST00000391894.2_Missense_Mutation_p.W44L|KCNK2_ENST00000391895.2_Missense_Mutation_p.W55L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	59							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTTATGAAATGGAAGACGGTC	0.512000													6	61					3.59834e-05	3.96762e-05	1	1	0
HAX1	10456	broad.mit.edu	37	1	154246071	154246071	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:154246071C>A	ENST00000328703.7	+	2	526	c.313C>A	c.(313-315)Cct>Act	p.P105T	HAX1_ENST00000483970.2_Missense_Mutation_p.P105T|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Missense_Mutation_p.P57T	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	105						actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCCATCCTCCTGGTGTGTG	0.527000									Kostmann syndrome				13	49					4.3838e-07	5.07598e-07	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38760311	38760311	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:38760311C>G	ENST00000449082.2	-	20	3513	c.3514G>C	c.(3514-3516)Gaa>Caa	p.E1172Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1172					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)	TAATAGTCTTCAAAGGCCTGG	0.542000													3	31					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82752538	82752538	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:82752538C>T	ENST00000248306.3	+	1	263	c.194C>T	c.(193-195)tCa>tTa	p.S65L	CCDC59_ENST00000548126.1_5'UTR|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		CTGAGGAAGTCAGCGTCGGAG	0.632000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	45					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690945	30690945	+	Missense_Mutation	SNP	C	C	A	rs143051895		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:30690945C>A	ENST00000215790.7	-	5	788	c.624G>T	c.(622-624)atG>atT	p.M208I	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.M120I|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.M82I|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.M215I	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	208	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGGCATATGCATGAGCAAGA	0.662000													50	92					5.73376e-24	8.02726e-24	1	1	0
APOB	338	broad.mit.edu	37	2	21231271	21231271	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:21231271A>T	ENST00000233242.1	-	26	8596	c.8469T>A	c.(8467-8469)gcT>gcA	p.A2823A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2823					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTCCTTCAGAGCCAGCGGAT	0.423000													14	161					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618461	52618461	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:52618461C>G	ENST00000600228.1	-	4	2217	c.1956G>C	c.(1954-1956)caG>caC	p.Q652H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATGAACAGTCTGATGAAGTC	0.413000													10	97					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706695	33706695	+	Silent	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:33706695T>A	ENST00000269187.5	-	2	489	c.276A>T	c.(274-276)atA>atT	p.I92I	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.I92I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	92	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ggtcatggtgTATATGGATTC	0.423000													22	17					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794394	242794394	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:242794394A>T	ENST00000334409.5	-	3	617	c.548T>A	c.(547-549)cTg>cAg	p.L183Q		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	183					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CCAGACTAGCAGCACCAGGCT	0.701000													6	6					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102991188	102991188	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:102991188A>T	ENST00000375735.2	+	7	1156	c.1012A>T	c.(1012-1014)Aga>Tga	p.R338*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R338*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R338*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	338	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTGGCTATTAGAACAATTCA	0.328000													10	50					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464706	73464706	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:73464706A>T	ENST00000556143.1	-	3	1521	c.801T>A	c.(799-801)acT>acA	p.T267T	ZFYVE1_ENST00000318876.5_Silent_p.T267T|ZFYVE1_ENST00000553891.1_Silent_p.T267T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	267						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTCTGCATGAGTTCGATAGA	0.547000													7	55					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46294678	46294678	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:46294678C>G	ENST00000359930.4	-	13	2676	c.1825G>C	c.(1825-1827)Gac>Cac	p.D609H	SULF2_ENST00000484875.1_Missense_Mutation_p.D609H|SULF2_ENST00000467815.1_Missense_Mutation_p.D609H|SULF2_ENST00000361612.4_Missense_Mutation_p.D609H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	609					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGGACTGTGTCGTTCTCTAGG	0.607000													10	60					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86252053	86252053	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:86252053C>A	ENST00000370571.2	-	48	4409	c.4043G>T	c.(4042-4044)gGa>gTa	p.G1348V	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1348V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1348	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCTTGAATTCCTGGGCTTCC	0.502000													22	54					1.50039e-11	1.91486e-11	1	1	0
GAK	2580	broad.mit.edu	37	4	853408	853408	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:853408C>A	ENST00000314167.4	-	24	3379	c.3269G>T	c.(3268-3270)aGc>aTc	p.S1090I	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1011I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1090					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAGGCCGGAGCTGAGGTCGCC	0.587000													9	53					0.00621372	0.00646562	1	1	0
FAM111B	374393	broad.mit.edu	37	11	58893522	58893522	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:58893522G>A	ENST00000343597.3	+	4	2143	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	FAM111B_ENST00000411426.1_Missense_Mutation_p.G621D|FAM111B_ENST00000529618.1_Missense_Mutation_p.G621D	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	651							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GGGTCCTCAGGCTCCCCAGTG	0.398000													7	35					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764695	164764695	+	Silent	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:164764695A>T	ENST00000264382.3	-	16	1883	c.1821T>A	c.(1819-1821)gcT>gcA	p.A607A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	607	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCCATGAAGCAGTATTGT	0.388000										HNSCC(35;0.089)			98	54					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10163030	10163030	+	RNA	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:10163030G>T	ENST00000495140.1	+	0	1463																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GAACCCCAAGGTTTGTGAGAT	0.527000													3	20					0.004672	0.00487238	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7627915	7627915	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:7627915C>G	ENST00000256861.6	-	8	1135	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.D353H|ITIH5_ENST00000298441.6_Missense_Mutation_p.D139H|ITIH5_ENST00000446830.2_Missense_Mutation_p.D135H|ITIH5_ENST00000397146.2_Missense_Mutation_p.D353H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	353	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGATGCTGTCTGGAGTGACT	0.448000													3	46					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13042231	13042231	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr18:13042231G>A	ENST00000506447.1	+	15	2045	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	CEP192_ENST00000430049.2_Silent_p.Q180Q|CEP192_ENST00000325971.8_Silent_p.Q59Q	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	250										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCAGGCACAGCTAAGTGAAG	0.378000													10	36					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826813	25826813	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:25826813C>G	ENST00000244527.4	-	3	198	c.83G>C	c.(82-84)tGt>tCt	p.C28S	SLC17A1_ENST00000427328.1_Missense_Mutation_p.C28S|SLC17A1_ENST00000476801.1_Missense_Mutation_p.C28S|SLC17A1_ENST00000468082.1_Missense_Mutation_p.C28S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	28					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACATTACAACAGTGCACAAG	0.433000													4	58					0	0	1	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458615	90458615	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:90458615C>A	ENST00000603238.1	+	2	291	c.291C>A	c.(289-291)agC>agA	p.97_97insR																								CCATCCGCAGCCTGCAGCCTG	0.493000													29	565					1.836e-18	2.47298e-18	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344049	38344049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:38344049G>T	ENST00000374618.3	+	5	1175	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E339*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E332*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E332*|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGAATGTAATGAATGTGGGAA	0.403000													8	106					5.18039e-06	5.85169e-06	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71358841	71358841	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:71358841C>T	ENST00000373677.1	+	2	1607	c.345C>T	c.(343-345)acC>acT	p.T115T	NHSL2_ENST00000510661.1_Silent_p.T250T|NHSL2_ENST00000535692.1_Silent_p.T115T|NHSL2_ENST00000540800.1_Silent_p.T481T			F5H593	F5H593_HUMAN	NHS-like 2	481										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCAGTGGGACCTCGAGGCTGG	0.607000													7	2					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47163273	47163273	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:47163273C>T	ENST00000295454.3	+	4	540	c.248C>T	c.(247-249)aCa>aTa	p.T83I	GABRB1_ENST00000538619.1_Missense_Mutation_p.T13I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	83					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGGATTATACACTCACCATG	0.353000													15	53					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285901	130285901	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr3:130285901T>C	ENST00000358511.6	+	4	1669	c.1638T>C	c.(1636-1638)aaT>aaC	p.N546N	COL6A6_ENST00000453409.2_Silent_p.N546N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	546	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGACAAATGGCATGTCCA	0.483000													8	96					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427742	47427742	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:47427742A>T	ENST00000295454.3	+	9	1424	c.1132A>T	c.(1132-1134)Acg>Tcg	p.T378S	GABRB1_ENST00000538619.1_Missense_Mutation_p.T308S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	378					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCGGAATGAGACGAGTGGCTC	0.587000													23	45					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111059	114111059	+	Silent	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr8:114111059G>C	ENST00000297405.5	-	5	1087	c.843C>G	c.(841-843)ctC>ctG	p.L281L	CSMD3_ENST00000343508.3_Silent_p.L241L|CSMD3_ENST00000455883.2_Silent_p.L281L|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.L281L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	281	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGTAAATATGAGTGAAATTG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	13					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	592631	592631	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:592631G>T	ENST00000264555.5	+	6	705	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PHRF1_ENST00000533464.1_Missense_Mutation_p.D189Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.D193Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	193							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGCAGGAGCGACCGTGAGGA	0.647000													67	59					3.07281e-33	4.42255e-33	1	1	0
ADSSL1	122622	broad.mit.edu	37	14	105207184	105207184	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:105207184A>G	ENST00000332972.5	+	7	881	c.722A>G	c.(721-723)aAc>aGc	p.N241S	ADSSL1_ENST00000330877.2_Missense_Mutation_p.N198S	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	198					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGATTCAAGAACCTGGCCCAC	0.587000													5	375					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296127	20296127	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:20296127C>A	ENST00000315947.1	+	1	520	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	OR4N2_ENST00000568211.1_Missense_Mutation_p.L174M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L174V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCAAACCAGCTGGACAACTT	0.527000													67	280					4.38816e-42	6.37526e-42	1	1	0
VPS39	23339	broad.mit.edu	37	15	42481357	42481357	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:42481357C>T	ENST00000318006.5	-	5	459	c.297G>A	c.(295-297)acG>acA	p.T99T	VPS39_ENST00000348544.4_Silent_p.T110T	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	110	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTTTGAAACCGTAGTGATTT	0.368000													4	57					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305523	46305523	+	Silent	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:46305523A>C	ENST00000510861.1	-	8	983	c.810T>G	c.(808-810)gtT>gtG	p.V270V	GABRA2_ENST00000381620.4_Silent_p.V270V|GABRA2_ENST00000540012.1_Silent_p.V215V|GABRA2_ENST00000514090.1_Silent_p.V270V|GABRA2_ENST00000356504.1_Silent_p.V270V|GABRA2_ENST00000515082.1_Silent_p.V270V|GABRA2_ENST00000507069.1_Silent_p.V270V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	270					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCAGAATGAAACTTGGGAGA	0.388000													5	59					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215820916	215820916	+	Silent	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:215820916G>A	ENST00000366943.2	-	67	15125	c.14739C>T	c.(14737-14739)aaC>aaT	p.N4913N	USH2A_ENST00000307340.3_Silent_p.N4913N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4913	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCCCACCTCGTTGTGTGCCA	0.527000										HNSCC(13;0.011)			3	42					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121317	38121317	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr10:38121317C>A	ENST00000395867.3	-	6	1516	c.966G>T	c.(964-966)aaG>aaT	p.K322N	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.K322N	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CACGGAGAATCTTTCTTGTGT	0.368000													20	43					4.35082e-09	5.27579e-09	1	1	0
STAB2	55576	broad.mit.edu	37	12	104089346	104089346	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:104089346C>G	ENST00000388887.2	+	32	3598	c.3394C>G	c.(3394-3396)Cgt>Ggt	p.R1132G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1132					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCACAAAGACGTCTAACTGG	0.478000													34	35					0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	75991484	75991484	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:75991484C>A	ENST00000286639.6	+	2	379	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.Q41K	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	41						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		TATTGCCGCCCAGAAGAGCCG	0.537000													3	17					0.00024832	0.000267422	1	1	0
AGMO	392636	broad.mit.edu	37	7	15240953	15240953	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:15240953C>A	ENST00000342526.3	-	13	1464	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	432					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTTCTAACTCCCCAGAAAGC	0.323000													27	35					3.99451e-17	5.34917e-17	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55606467	55606467	+	Silent	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:55606467T>A	ENST00000378396.1	+	1	240	c.240T>A	c.(238-240)gcT>gcA	p.A80A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATCATTGCTCCCATGATGC	0.393000													57	107					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412611	154412611	+	Missense_Mutation	SNP	C	C	T	rs79668187		TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:154412611C>T	ENST00000428397.2	+	3	1364	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000229768.5_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	390					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.?(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCAGGTACGCAGTCTCTA	0.408000													8	30					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12920008	12920008	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:12920008G>C	ENST00000240189.2	+	3	835	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	250										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGATAATGAACTCGAGGG	0.438000													10	81					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760723	15760723	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:15760723G>T	ENST00000221307.7	+	7	696	c.647_splice	c.e7-1	p.E216_splice	CYP4F3_ENST00000585846.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000591058.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000586182.1_Splice_Site_p.E216_splice	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	216					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TATCCTGCAGGAAGCCCAGTG	0.493000													10	176					7.48243e-07	8.57787e-07	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152510431	152510431	+	Missense_Mutation	SNP	G	G	A	rs138747167	by1000genomes	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:152510431G>A	ENST00000367255.5	-	128	23858	c.23257C>T	c.(23257-23259)Cgc>Tgc	p.R7753C	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2277C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7682C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7365C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7682C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7753C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7753					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R7753C(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCTACGCGTTCATTAAGA	0.443000										HNSCC(10;0.0054)			6	72					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423573	88423573	+	Silent	SNP	T	T	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:88423573T>G	ENST00000297203.2	-	2	869	c.684A>C	c.(682-684)acA>acC	p.T228T	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	228										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTTTATAAATGTTGCCGGGT	0.448000													22	43					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860203	860203	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr4:860203A>C	ENST00000314167.4	-	22	3102	c.2992T>G	c.(2992-2994)Tct>Gct	p.S998A	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S919A	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	998					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGTGGGCAGACGGGAAGGAT	0.622000													7	31					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464705	73464705	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:73464705G>T	ENST00000556143.1	-	3	1522	c.802C>A	c.(802-804)Cat>Aat	p.H268N	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H268N|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H268N	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	268						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CGGTCTGCATGAGTTCGATAG	0.552000													7	54					0.0381472	0.0389051	1	1	0
ANGEL1	23357	broad.mit.edu	37	14	77275617	77275617	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:77275617G>A	ENST00000251089.2	-	2	546	c.434C>T	c.(433-435)tCc>tTc	p.S145F	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	145										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGCCCACATGGAGCCCTCCAC	0.632000													20	16					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111708982	111708982	+	Silent	SNP	T	T	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:111708982T>A	ENST00000398006.2	-	11	1688	c.780A>T	c.(778-780)gcA>gcT	p.A260A	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.A267A|ALG9_ENST00000527228.1_5'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	431					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTCTGAACAGTGCCACAGAGC	0.408000													9	18					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376610	50376610	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:50376610C>A	ENST00000376020.2	-	4	2488	c.2463G>T	c.(2461-2463)ttG>ttT	p.L821F	SHROOM4_ENST00000460112.3_Missense_Mutation_p.L705F|SHROOM4_ENST00000289292.7_Missense_Mutation_p.L821F	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	821					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GATGGCGCCTCAATTCCCTAC	0.458000													42	73					1.22674e-20	1.67679e-20	1	1	0
ADAM21	8747	broad.mit.edu	37	14	70924239	70924239	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:70924239T>G	ENST00000603540.1	+	2	281	c.23T>G	c.(22-24)gTg>gGg	p.V8G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.V8G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	8					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGACCCTCGTGTACATCAGA	0.542000													19	95					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17664319	17664319	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:17664319G>C	ENST00000335393.4	+	16	2179	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	FAM129C_ENST00000601861.1_Missense_Mutation_p.E650Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.E407Q	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	681										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACACTCCCTGGAGACCGTTTC	0.542000													7	125					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944721	94944721	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:94944721G>T	ENST00000222381.3	-	4	514	c.283C>A	c.(283-285)Cca>Aca	p.P95T	PON1_ENST00000542556.1_Missense_Mutation_p.P95T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	95					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AACACTGTTGGATCTTCTTCA	0.383000													6	46					0.0293803	0.0300969	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22368966	22368966	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:22368966C>G	ENST00000332663.2	+	1	489	c.391C>G	c.(391-393)Cac>Gac	p.H131D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCGACCCCTCCACTATGCTAC	0.507000													44	268					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26125580	26125580	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr13:26125580G>T	ENST00000381655.2	+	11	1138	c.996G>T	c.(994-996)tcG>tcT	p.S332S	ATP8A2_ENST00000255283.8_Silent_p.S292S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	292					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGTGAGCTCGGCGGGGGCCC	0.512000													15	36					2.31682e-05	2.57301e-05	1	1	0
DPY19L3	147991	broad.mit.edu	37	19	32954347	32954347	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:32954347C>A	ENST00000342179.5	+	13	1613	c.1398C>A	c.(1396-1398)aaC>aaA	p.N466K	DPY19L3_ENST00000392250.2_Missense_Mutation_p.N466K|DPY19L3_ENST00000586987.1_Missense_Mutation_p.N466K|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	466						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGCCTACAACTTAATACATA	0.343000													5	54					0.217242	0.218187	1	1	0
CDR1	1038	broad.mit.edu	37	X	139865950	139865950	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chrX:139865950C>G	ENST00000370532.2	-	1	773	c.582G>C	c.(580-582)tgG>tgC	p.W194C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	194	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCTGAAGATCCACGTCTTCC	0.438000													27	103					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058246	56058246	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:56058246G>T	ENST00000313022.2	-	1	320	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAACATCTGGGCAAAGCAGCC	0.423000													57	132					6.4308e-24	8.94889e-24	1	1	0
LRP2	4036	broad.mit.edu	37	2	170053482	170053482	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:170053482T>C	ENST00000263816.3	-	46	8922	c.8637A>G	c.(8635-8637)caA>caG	p.Q2879Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2879	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATACCAATGTTGAGGAATAC	0.458000													10	50					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49587000	49587000	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:49587000C>A	ENST00000371175.4	-	2	259	c.233G>T	c.(232-234)aGc>aTc	p.S78I	RHAG_ENST00000229810.7_Missense_Mutation_p.S78I	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	78					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ACCCACACTGCTGAAGCCATA	0.438000													16	28					6.72482e-11	8.44258e-11	1	1	0
MYH3	4621	broad.mit.edu	37	17	10554923	10554923	+	Silent	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr17:10554923G>T	ENST00000583535.1	-	5	498	c.411C>A	c.(409-411)ccC>ccA	p.P137P	MYH3_ENST00000226209.7_Silent_p.P137P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	137	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCACCACCTCGGGGTTGTACA	0.537000													16	120					2.32078e-09	2.83651e-09	1	1	0
ANO3	63982	broad.mit.edu	37	11	26563574	26563574	+	Silent	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:26563574C>T	ENST00000256737.3	+	11	1965	c.1113C>T	c.(1111-1113)cgC>cgT	p.R371R	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Silent_p.R355R|ANO3_ENST00000531568.1_Silent_p.R225R|ANO3_ENST00000537978.1_Silent_p.R355R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	371						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCTGGGCACGCTGGGGAATGT	0.413000													6	29					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46211563	46211563	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:46211563A>G	ENST00000334344.6	+	5	701	c.529A>G	c.(529-531)Att>Gtt	p.I177V	ARID2_ENST00000422737.1_Missense_Mutation_p.I28V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	177					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGACTTTGCTATTAACGTATG	0.383000			"""N, S, F"""		hepatocellular carcinoma								9	23					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8759495	8759495	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:8759495G>C	ENST00000229335.6	-	2	225	c.122C>G	c.(121-123)tCc>tGc	p.S41C	AICDA_ENST00000537228.1_Missense_Mutation_p.S41C	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	41					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CAGTGAAAAGGATGTAGCACT	0.463000													4	42					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716344	39716344	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:39716344G>T	ENST00000553728.1	+	4	779	c.566G>T	c.(565-567)aGt>aTt	p.S189I	MIA2_ENST00000556784.1_Missense_Mutation_p.S188I|MIA2_ENST00000280082.3_Missense_Mutation_p.S189I																							GATATCGGAAGTACCAGTGAA	0.408000													5	73					0.0215528	0.0221275	1	1	0
MBD5	55777	broad.mit.edu	37	2	149248053	149248053	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:149248053G>A	ENST00000407073.1	+	12	5150	c.4153G>A	c.(4153-4155)Gtt>Att	p.V1385I	MBD5_ENST00000404807.1_Missense_Mutation_p.V1618I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1385	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GACGTTCAATGTTGGCGACTT	0.448000													10	47					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89887457	89887457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr7:89887457C>T	ENST00000389297.4	+	3	477	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	C7orf63_ENST00000316089.8_Nonsense_Mutation_p.Q76*|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.Q76*|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	76							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAAACTGGTACAGTGTTATCA	0.284000													17	15					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25297596	25297596	+	Silent	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr12:25297596T>C	ENST00000354189.5	-	9	914	c.879A>G	c.(877-879)agA>agG	p.R293R	CASC1_ENST00000395987.3_Silent_p.R235R|CASC1_ENST00000395990.2_Silent_p.R189R|CASC1_ENST00000320267.9_Silent_p.R229R|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Silent_p.R170R|CASC1_ENST00000537577.1_Silent_p.R117R	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	229										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTCAGAGAATCTAACACTTC	0.358000													13	19					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067611	16067611	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:16067611C>G	ENST00000332432.8	-	4	1377	c.1178G>C	c.(1177-1179)gGg>gCg	p.G393A		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	393						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACAACCTCCCCCGAGCTGTT	0.453000													66	118					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299261	158299261	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:158299261T>C	ENST00000368168.3	-	4	892	c.785A>G	c.(784-786)tAt>tGt	p.Y262C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	262	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGCTCGGAGATACCATGTCCA	0.597000													5	119					0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1181945	1181945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr1:1181945delG	ENST00000330388.2	-	1	157	c.126delC	c.(124-126)ccfs	p.P42fs		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	42						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGTGGCGTTGGGGGGATCTG	0.776													2	4	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315279	73315279	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr2:73315279delG	ENST00000258098.6	-	3	1707	c.1467delC	c.(1465-1467)ccfs	p.P489fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	489					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCCCCAGGATGGGACCCCCCT	0.607													28	119	---	---	---	---					
PCDHB15	56121	broad.mit.edu	37	5	140626892	140626892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:140626892delG	ENST00000231173.3	+	1	1746	c.1746delG	c.(1744-1746)ccfs	p.P582fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		582	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P582P(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCGAGCCGGGCTACCTGG	0.706													9	51	---	---	---	---					
JAKMIP2	9832	broad.mit.edu	37	5	147012302	147012303	+	In_Frame_Ins	INS	-	-	TTG	rs3763095	byFrequency	TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr5:147012302_147012303insTTG	ENST00000265272.5	-	13	2183_2184	c.1716_1717insCAA	c.(1714-1719)caaact>caCAAaact	p.572_572Q>HK	JAKMIP2_ENST00000507386.1_In_Frame_Ins_p.551_551Q>HK|JAKMIP2_ENST00000333010.6_In_Frame_Ins_p.530_530Q>HK	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	572						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTAGTTCTTGTTGTAACC	0.376													14	112	---	---	---	---					
TBX18	9096	broad.mit.edu	37	6	85446744	85446744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr6:85446744delG	ENST00000369663.5	-	8	1820	c.1483delC	c.(1483-1485)agfs	p.Q495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTGGAGCTGGGGGGACATT	0.537													40	100	---	---	---	---					
NAALADL1	10004	broad.mit.edu	37	11	64815685	64815687	+	Splice_Site	DEL	CTC	CTC	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr11:64815685_64815687delCTC	ENST00000358658.3	-	10	1312_1314	c.1284_splice	c.e10-1	p.E429_splice	NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000356632.3_Splice_Site_p.E394_splice|NAALADL1_ENST00000355369.2_Splice_Site_p.E429_splice|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355721.3_Splice_Site_p.E388_splice|NAALADL1_ENST00000339885.2_Splice_Site_p.E429_splice|NAALADL1_ENST00000340252.4_Splice_Site_p.E480_splice	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	429	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TGTTGAAGAACTCCTGCGGGTGC	0.621													15	117	---	---	---	---					
EML5	161436	broad.mit.edu	37	14	89171267	89171268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:89171267_89171268insT	ENST00000554922.1	-	13	2235_2236	c.1987_1988insA	c.(1987-1989)tgcfs	p.C663fs	EML5_ENST00000380664.5_Frame_Shift_Ins_p.C663fs|EML5_ENST00000352093.5_Frame_Shift_Ins_p.C663fs	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	663						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGAAGTAGCACTTTTTTGTTTC	0.302													12	38	---	---	---	---					
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													7	367	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20658850	20658850	+	RNA	DEL	A	A	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr15:20658850delA	ENST00000428453.1	-	0	1994																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTAATTAAGAAAAAAATATG	0.373													12	140	---	---	---	---					
SHC2	25759	broad.mit.edu	37	19	418985	418985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr19:418985delG	ENST00000264554.6	-	12	1691	c.1692delC	c.(1690-1692)ccfs	p.P564fs		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	564	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGCCACGATGGGCTGCCCGT	0.667													2	4	---	---	---	---					
PTPRT	11122	broad.mit.edu	37	20	40979284	40979284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr20:40979284delG	ENST00000373198.3	-	11	2084	c.1849delC	c.(1849-1851)ggfs	p.R617fs	PTPRT_ENST00000356100.2_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373187.1_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.R617fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.R617fs	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	617	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGCTCCCCGGGACTGAGCG	0.527													51	73	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													3	4	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-DQ-7589-01A-11D-2229-08	TCGA-DQ-7589-10C-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de34e28e-942b-442b-b745-7f2a0e56f3ff	8b0f925a-eac1-4d07-981f-3fd48e8006f3	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													6	12	---	---	---	---					
