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
DEAF1	10522	broad.mit.edu	37	11	674755	674755	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:674755G>A	ENST00000382409.3	-	10	1768	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	DEAF1_ENST00000525904.1_5'UTR|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000338675.6_Silent_p.V339V	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	428	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TCGGGGGTGGGACCGCCAGCG	0.537000													22	82					0	0	0.021523	0	0
SLC15A4	121260	broad.mit.edu	37	12	129278778	129278778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:129278778G>A	ENST00000266771.5	-	8	1736	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	SLC15A4_ENST00000544112.1_Missense_Mutation_p.S229L|SLC15A4_ENST00000545031.1_Missense_Mutation_p.S83L	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	566					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		ATTGGCTCTTGATCGCTGATG	0.498000													9	71					0	0	0.004482	0	0
GPR78	27201	broad.mit.edu	37	4	8588793	8588793	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:8588793C>T	ENST00000382487.4	+	3	1212	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	265					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGCGGAGCTCGTGCCCTTCG	0.637000													9	10					0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11520890	11520890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11520890G>A	ENST00000262442.3	+	5	1135	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G356E|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	356	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTCCCCGGGAAGGCTGACT	0.617000													7	49					0	0	0.004482	0	0
ZNF609	23060	broad.mit.edu	37	15	64968417	64968417	+	Silent	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:64968417C>A	ENST00000326648.3	+	4	3492	c.3364C>A	c.(3364-3366)Cga>Aga	p.R1122R		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1122						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGTGTGGTCGACAGGCAGA	0.542000													14	40					7.07596e-05	7.69951e-05	0.006122	1	0
SPIDR	23514	broad.mit.edu	37	8	48625418	48625418	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:48625418C>T	ENST00000297423.4	+	15	2556	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.D654D|SPIDR_ENST00000518074.1_Silent_p.D664D|SPIDR_ENST00000517693.1_Silent_p.D199D	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TCTTCAAGGACGCTCTCCGTG	0.602000													23	62					0	0	0.014323	0	0
OR6T1	219874	broad.mit.edu	37	11	123814339	123814339	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123814339C>T	ENST00000321252.2	-	1	241	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAACAGCTCCAGGAAGGAGA	0.498000													8	67					0	0	0.004482	0	0
DNAH3	55567	broad.mit.edu	37	16	21156557	21156557	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:21156557T>C	ENST00000261383.3	-	3	392	c.393A>G	c.(391-393)caA>caG	p.Q131Q	DNAH3_ENST00000415178.1_Silent_p.Q131Q|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	131	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTGGCCGGTTGGTAGACCT	0.562000													3	15					0	0	0.004672	0	0
NIN	51199	broad.mit.edu	37	14	51243724	51243724	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:51243724G>A	ENST00000245441.5	-	7	799	c.609C>T	c.(607-609)aaC>aaT	p.N203N	NIN_ENST00000389868.3_Silent_p.N203N|NIN_ENST00000382041.3_Silent_p.N203N|NIN_ENST00000382043.4_Silent_p.N203N|NIN_ENST00000324330.9_Silent_p.N203N|NIN_ENST00000530997.2_Silent_p.N203N|NIN_ENST00000453196.1_Silent_p.N203N	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	203	EF-hand 3.			N -> D (in Ref. 2; AAG33512).	centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTTCTTCCGGTTCAGGTGAC	0.458000			T	PDGFRB	MPD								9	49					0	0	0.006214	0	0
SCN9A	6335	broad.mit.edu	37	2	167160792	167160792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:167160792G>A	ENST00000303354.6	-	6	987	c.647C>T	c.(646-648)aCt>aTt	p.T216I	SCN9A_ENST00000409672.1_Missense_Mutation_p.T215I|SCN9A_ENST00000409435.1_Missense_Mutation_p.T215I|SCN9A_ENST00000375387.4_Intron			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	215			F -> S (in PERYTHM; hyperpolarizes the voltage dependence of activation by 11 mV, accelerates activation, slows deactivation and enhances the response to slow, small depolarizations).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACTCTGAAAGTTCGAAGAGC	0.338000													4	19					0	0	0.014758	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716972	222716972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:222716972G>A	ENST00000343410.6	-	2	939	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTCCAGGCACGAATAATAAAT	0.468000													112	384					0	0	0.014410	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221642	42221642	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:42221642G>A	ENST00000221992.6	+	5	1341	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.L409L|CEACAM5_ENST00000398599.4_Silent_p.L408L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	409	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGTCATCCTGAATGTCCTCT	0.517000													19	84					0	0	0.016522	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967437	133967437	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:133967437G>A	ENST00000298622.4	+	18	2295	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTAAGCAGAAGGGCTACCTGG	0.627000													5	31					0	0	0.014758	0	0
VIPR1	7433	broad.mit.edu	37	3	42572390	42572390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:42572390G>A	ENST00000438259.2	+	4	532	c.146G>A	c.(145-147)gGa>gAa	p.G49E	VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000433647.1_Silent_p.R211R|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000543411.1_Silent_p.R204R|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000325123.4_Silent_p.R252R|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA	NM_001251883.1	NP_001238812.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	0					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCTCTGAGCGGAAGTACTTCT	0.567000													12	49					0	0	0.016723	0	0
KLKB1	3818	broad.mit.edu	37	4	187157996	187157996	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:187157996G>A	ENST00000264690.6	+	5	577	c.390G>A	c.(388-390)aaG>aaA	p.K130K	KLKB1_ENST00000513864.1_Silent_p.K130K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	130	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATGTGTCTAAGGTTAGCAGTG	0.388000													10	38					0	0	0.008291	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:3254555C>T	ENST00000304646.2	+	1	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000													23	100					0	0	0.021523	0	0
IGHG4	3503	broad.mit.edu	37	14	106092212	106092212	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:106092212G>A	ENST00000390543.2	-	0	191																											CGCTGCTGAGGGAGTAGAGTC	0.612000													7	33					0	0	0.001984	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477462	110477462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:110477462G>A	ENST00000260283.4	-	10	1071	c.787C>T	c.(787-789)Cca>Tca	p.P263S	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P240S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P237S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P237S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P227S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	263	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATTCCATATGGATATTCATGC	0.438000													21	65					0	0	0.010504	0	0
NLRP7	199713	broad.mit.edu	37	19	55449492	55449492	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55449492T>C	ENST00000446217.1	-	7	2535	c.2133A>G	c.(2131-2133)aaA>aaG	p.K711K	NLRP7_ENST00000448121.2_Silent_p.K655K|NLRP7_ENST00000592784.1_Silent_p.K683K|NLRP7_ENST00000590030.1_Silent_p.K683K|NLRP7_ENST00000588756.1_Silent_p.K683K|NLRP7_ENST00000340844.2_Silent_p.K683K|NLRP7_ENST00000328092.5_Silent_p.K655K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	683							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAAGCTTTGTTTCACTTCCA	0.493000													63	114					0	0	0.014410	0	0
NXF2B	728343	broad.mit.edu	37	X	101615544	101615544	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:101615544T>G	ENST00000457521.2	-	34	3730	c.1859A>C	c.(1858-1860)gAg>gCg	p.E620A	NXF2B_ENST00000412230.2_Missense_Mutation_p.E620A|NXF2B_ENST00000372750.1_Missense_Mutation_p.E620A|NXF2B_ENST00000372749.1_Missense_Mutation_p.E620A|NXF2B_ENST00000372752.1_3'UTR					nuclear RNA export factor 2B											breast(1)|kidney(1)|lung(4)|ovary(1)	7						CTTGAAGGCCTCCGCGGGGAT	0.517000													8	38					0	0	0.003080	0	0
ALOX12B	242	broad.mit.edu	37	17	7989341	7989341	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7989341C>T	ENST00000319144.4	-	2	605	c.345G>A	c.(343-345)gaG>gaA	p.E115E		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	115	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TACCTGTGGCCTCCCGGAGTG	0.617000										Multiple Myeloma(8;0.094)			15	33					0	0	0.028581	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108813	75108813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:75108813G>A	ENST00000309664.5	+	3	515	c.376G>A	c.(376-378)Ggg>Agg	p.G126R	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G126R	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	126	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTCCTTGGGGGGCTGGC	0.672000													17	74					0	0	0.010504	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602168	58602168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:58602168G>A	ENST00000287275.1	-	6	1009	c.619C>T	c.(619-621)Cca>Tca	p.P207S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.P207S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	207						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGGCCCTCTGGACCCAGCACA	0.468000													8	14					0	0	0.003080	0	0
GBP7	388646	broad.mit.edu	37	1	89614989	89614989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:89614989G>A	ENST00000294671.2	-	7	1276	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	380						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTTCTTCTGAAATTCCTGG	0.408000													5	20					0	0	0.014758	0	0
LDB3	11155	broad.mit.edu	37	10	88476105	88476105	+	Missense_Mutation	SNP	C	C	T	rs141870580	by1000genomes	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:88476105C>T	ENST00000429277.2	+	10	1413	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	LDB3_ENST00000352360.5_Missense_Mutation_p.P161L|LDB3_ENST00000263066.6_Missense_Mutation_p.P308L|LDB3_ENST00000361373.4_Missense_Mutation_p.P418L|LDB3_ENST00000458213.2_Missense_Mutation_p.P308L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	418						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACCTACAGCCCGTCCCCAGGG	0.592000													6	24					0	0	0.003080	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296051	233296051	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:233296051C>T	ENST00000258229.8	-	19	3729	c.3495G>A	c.(3493-3495)gaG>gaA	p.E1165E	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.E298E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1165						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTGATGATACTCTTTGTTTT	0.443000													10	34					0	0	0.010729	0	0
FZD10	11211	broad.mit.edu	37	12	130648678	130648678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:130648678C>T	ENST00000539839.1	+	1	1675	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	FZD10_ENST00000229030.4_Silent_p.F397F	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCACCGGCTTCGTGCTCATTC	0.642000													13	43					0	0	0.020292	0	0
USP26	83844	broad.mit.edu	37	X	132160520	132160520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:132160520G>A	ENST00000511190.1	-	6	2198	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	USP26_ENST00000370832.1_Nonsense_Mutation_p.R577*|USP26_ENST00000406273.1_Nonsense_Mutation_p.R577*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	577					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTCATCTTTCGAATAACTTTT	0.398000													4	34					0	0	0.021553	0	0
OR4D1	26689	broad.mit.edu	37	17	56232787	56232787	+	Silent	SNP	G	G	A	rs17222013		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:56232787G>A	ENST00000268912.5	+	1	294	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGACCAAGACGATCTCCTACC	0.498000													21	63					0	0	0.006320	0	0
OR4K2	390431	broad.mit.edu	37	14	20344937	20344937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20344937C>T	ENST00000298642.2	+	1	547	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTGTGGTCCCTATGAGGT	0.478000													44	314					0	0	0.014410	0	0
ZXDA	7789	broad.mit.edu	37	X	57935505	57935505	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:57935505G>A	ENST00000358697.4	-	1	1562	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	450	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGTCACAAAGGAAAGGTCTCT	0.512000													4	64					0	0	0.009096	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811309	5811309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:5811309G>A	ENST00000381095.3	-	6	2627	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	NLGN4X_ENST00000381092.1_Missense_Mutation_p.T667I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T667I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T667I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T687I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	667					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTCGTTTGGTTTCAATGAG	0.502000													27	130					0	0	0.009535	0	0
HIBADH	11112	broad.mit.edu	37	7	27669065	27669065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:27669065G>A	ENST00000265395.2	-	4	615	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	137					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GAAACTGCAGGATCAATAGTG	0.333000													53	200					0	0	0.014410	0	0
GMPR2	51292	broad.mit.edu	37	14	24706750	24706750	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:24706750G>T	ENST00000557854.1	+	7	1010	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	GMPR2_ENST00000559836.1_Missense_Mutation_p.D227Y|GMPR2_ENST00000355299.4_Missense_Mutation_p.D227Y|GMPR2_ENST00000456667.3_Missense_Mutation_p.D199Y|GMPR2_ENST00000559910.1_Missense_Mutation_p.D194Y|GMPR2_ENST00000399440.2_Missense_Mutation_p.D227Y|GMPR2_ENST00000348719.7_Missense_Mutation_p.D227Y|GMPR2_ENST00000560517.1_3'UTR|GMPR2_ENST00000420554.2_Missense_Mutation_p.D245Y|GMPR2_ENST00000559104.1_Missense_Mutation_p.D212Y			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	227					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CTGTCCTGGGGATGTGGCCAA	0.502000													20	72					1.00905e-13	1.11796e-13	0.008871	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806033	97806033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:97806033G>A	ENST00000358642.2	+	1	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATATCAGAGGGAAATAAGACT	0.373000													16	62					0	0	0.024245	0	0
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:42356113C>T	ENST00000554171.1	+	5	2717	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000298119.4_Silent_p.F95F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	95						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348000										HNSCC(30;0.082)			10	38					0	0	0.013537	0	0
CST9	128822	broad.mit.edu	37	20	23586408	23586408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:23586408C>T	ENST00000376971.3	-	1	105	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	32						extracellular region	cysteine-type endopeptidase inhibitor activity	p.E32K(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATTTCCTCTTCAGAACACCAG	0.512000													18	64					0	0	0.004990	0	0
SYTL2	54843	broad.mit.edu	37	11	85435627	85435627	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:85435627G>T	ENST00000359152.5	-	1	3444	c.3445C>A	c.(3445-3447)Cac>Aac	p.H1149N	SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.H625N|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.H625N|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	311					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCCTTCTCGTGAGTTTCTTCT	0.458000													16	29					2.94398e-08	3.24486e-08	0.007413	1	0
CCBE1	147372	broad.mit.edu	37	18	57115224	57115224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:57115224C>T	ENST00000439986.4	-	7	803	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	CCBE1_ENST00000398179.2_Silent_p.R31R	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	256	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCGGGAGGGCCCTGGCCCCCA	0.582000													14	58					0	0	0.028581	0	0
ATP7B	540	broad.mit.edu	37	13	52531657	52531657	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:52531657G>A	ENST00000242839.4	-	9	2598	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	ATP7B_ENST00000400366.3_Silent_p.I703I|ATP7B_ENST00000417240.2_Silent_p.I86I|ATP7B_ENST00000344297.5_Silent_p.I652I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Silent_p.I814I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.I736I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	814					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCACCTGATGATTAAATTGT	0.438000									Wilson disease				18	44					0	0	0.008871	0	0
KDELR3	11015	broad.mit.edu	37	22	38877506	38877506	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:38877506T>A	ENST00000409006.3	+	4	797	c.641T>A	c.(640-642)cTa>cAa	p.L214Q	KDELR3_ENST00000216014.4_Intron|KDELR3_ENST00000471268.1_Intron	NM_016657.1	NP_057839.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	0					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GACACTGGCCTAAGGAGTTAC	0.433000													16	45					0	0	0.028581	0	0
LRRC7	57554	broad.mit.edu	37	1	70587489	70587489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:70587489G>A	ENST00000310961.5	+	27	4825	c.4407G>A	c.(4405-4407)atG>atA	p.M1469I	LRRC7_ENST00000415775.2_Missense_Mutation_p.M795I|LRRC7_ENST00000035383.5_Missense_Mutation_p.M1511I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1511	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGTACATATGGAACATGAAA	0.308000													7	27					0	0	0.008291	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247248	142247248	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:142247248C>T	ENST00000390361.3	-	0	257																											GCACCCGTGCCTTGGAAGTAA	0.542000													12	45					0	0	0.013537	0	0
GRM2	2912	broad.mit.edu	37	3	51751693	51751693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51751693G>A	ENST00000395052.3	+	5	2639	c.2405G>A	c.(2404-2406)gGc>gAc	p.G802D	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.G524D	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	802					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGCCTCAGCGGCTCCGTGGTG	0.627000													8	21					0	0	0.006214	0	0
OR11G2	390439	broad.mit.edu	37	14	20666414	20666414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20666414G>A	ENST00000357366.3	+	1	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		aatgaagctggaaagcagaag	0.453000													9	80					0	0	0.006214	0	0
GPR158	57512	broad.mit.edu	37	10	25887246	25887246	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:25887246G>A	ENST00000376351.3	+	11	3050	c.2691G>A	c.(2689-2691)tcG>tcA	p.S897S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	897						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACGAACATCGATGTTACAGA	0.522000													13	70					0	0	0.016723	0	0
PCDH20	64881	broad.mit.edu	37	13	61986959	61986959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:61986959C>T	ENST00000409186.1	-	5	3378	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E425K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	398	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGACAATTTCAGGGGGTCTG	0.448000													20	63					0	0	0.010504	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482566	54482566	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:54482566C>T	ENST00000317802.7	-	1	843	c.723G>A	c.(721-723)agG>agA	p.R241R	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	241					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGATGTCATTCCTCTGCTCCA	0.552000													7	38					0	0	0.001984	0	0
MCCC1	56922	broad.mit.edu	37	3	182733275	182733275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:182733275G>A	ENST00000492597.1	-	18	2504	c.1802C>T	c.(1801-1803)cCt>cTt	p.P601L	MCCC1_ENST00000265594.4_Missense_Mutation_p.P710L			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	710					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTCGACTAAAGGAGTGTGTCT	0.448000													25	102					0	0	0.021523	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463757	24463757	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:24463757C>T	ENST00000270800.1	-	3	257	c.219G>A	c.(217-219)cgG>cgA	p.R73R		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	73	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCGGGTGATCCGCTGACAGC	0.632000													11	41					0	0	0.008291	0	0
EFR3A	23167	broad.mit.edu	37	8	133023050	133023050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:133023050C>T	ENST00000254624.5	+	23	2599	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	EFR3A_ENST00000334503.4_Missense_Mutation_p.P792S|EFR3A_ENST00000519656.1_Missense_Mutation_p.P756S|EFR3A_ENST00000521940.1_3'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	792						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCCTCCCAGTCCATCAGGAAC	0.433000													6	19					0	0	0.021553	0	0
PRPF4	9128	broad.mit.edu	37	9	116046646	116046646	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:116046646C>T	ENST00000374199.4	+	7	1127	c.726C>T	c.(724-726)tcC>tcT	p.S242S	PRPF4_ENST00000374198.4_Silent_p.S243S			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	243						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTCCCAATTCCAAGATGCTGG	0.388000													9	32					0	0	0.006214	0	0
OR5W2	390148	broad.mit.edu	37	11	55681168	55681168	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55681168C>T	ENST00000344514.1	-	1	890	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGCCTCTTTCACATCCTTGT	0.328000													6	10					0	0	0.021553	0	0
CLCN5	1184	broad.mit.edu	37	X	49855005	49855005	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:49855005G>A	ENST00000376088.3	+	13	2618	c.1977G>A	c.(1975-1977)cgG>cgA	p.R659R	CLCN5_ENST00000307367.2_Silent_p.R589R|CLCN5_ENST00000376108.3_Silent_p.R589R|CLCN5_ENST00000376091.3_Silent_p.R659R	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	589					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGAAACCCCGGAGAAATGATC	0.463000													9	57					0	0	0.006214	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172032	32172032	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:32172032C>T	ENST00000375023.3	-	19	3138	c.3000G>A	c.(2998-3000)ggG>ggA	p.G1000G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1000	EGF-like 25.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACAGCGTAGCCCCACAAAGC	0.597000													73	170					0	0	0.014410	0	0
OR2L13	284521	broad.mit.edu	37	1	248262767	248262767	+	Silent	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248262767C>A	ENST00000366478.2	+	3	427	c.90C>A	c.(88-90)atC>atA	p.I30I	OR2L13_ENST00000358120.2_Silent_p.I30I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGTGCCTTATCATCCTCATAT	0.443000													23	97					1.10513e-12	1.22124e-12	0.014323	1	0
CYTH3	9265	broad.mit.edu	37	7	6210176	6210176	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:6210176G>A	ENST00000350796.3	-	9	949	c.813C>T	c.(811-813)ctC>ctT	p.L271L	CYTH3_ENST00000396741.2_Silent_p.L186L|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	271	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CCAGCTTCAGGAGCCAGCCCT	0.632000													7	20					0	0	0.006214	0	0
KRT16	3868	broad.mit.edu	37	17	39767698	39767698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:39767698G>A	ENST00000301653.4	-	3	734	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AACACCCGGCGCAGGCCATTG	0.617000													7	42					0	0	0.006214	0	0
LINGO4	339398	broad.mit.edu	37	1	151773751	151773751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:151773751C>T	ENST00000368820.3	-	2	2367	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	477	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTCTGTCCCGTAGCTGCAC	0.592000													32	117					0	0	0.013726	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654985	15654985	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:15654985T>G	ENST00000269703.2	+	10	1230	c.1031T>G	c.(1030-1032)aTc>aGc	p.I344S	CYP4F22_ENST00000601005.2_Missense_Mutation_p.I344S	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	344						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCCAGTGGGATCTCTTGGATG	0.507000													17	61					0	0	0.006122	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185196	127185196	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:127185196G>A	ENST00000371124.3	-	1	1186	c.990C>T	c.(988-990)atC>atT	p.I330I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	330						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGAAGCTGTGATCTTGATGG	0.522000													18	66					0	0	0.004990	0	0
SERPINE3	647174	broad.mit.edu	37	13	51936089	51936089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:51936089G>A	ENST00000521255.1	+	7	1291	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	SERPINE3_ENST00000400389.4_Intron|RP11-24B19.4_ENST00000602881.1_RNA|SERPINE3_ENST00000524365.1_Intron	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	411					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TAGCAACAAGGGCTCATTTGT	0.388000													8	45					0	0	0.004482	0	0
ITGB8	3696	broad.mit.edu	37	7	20421376	20421376	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:20421376T>C	ENST00000222573.3	+	6	1512	c.828T>C	c.(826-828)gcT>gcC	p.A276A	ITGB8_ENST00000537992.1_Silent_p.A141A	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	276	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GAAAAGAGGCTAAAAGATTGC	0.403000													14	26					0	0	0.020292	0	0
ZNF285	26974	broad.mit.edu	37	19	44891904	44891904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:44891904C>T	ENST00000330997.4	-	4	567	c.503G>A	c.(502-504)gGa>gAa	p.G168E	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G168E|ZNF285_ENST00000591679.1_Missense_Mutation_p.G175E	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						CATGTAAATTCCCTTATATCT	0.468000													19	62					0	0	0.008871	0	0
GLI2	2736	broad.mit.edu	37	2	121732575	121732575	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:121732575G>T	ENST00000452319.1	+	9	1318	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.D420Y|GLI2_ENST00000314490.11_Missense_Mutation_p.D92Y			P10070	GLI2_HUMAN	GLI family zinc finger 2	420					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCAAGGAAGATCTGGACAG	0.582000													11	47					4.68919e-08	5.16174e-08	0.008291	1	0
ZNF676	163223	broad.mit.edu	37	19	22364330	22364330	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:22364330G>A	ENST00000397121.2	-	3	506	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCATTTTTTGGAAAGAATCTT	0.308000													4	19					0	0	0.009096	0	0
GSTM5	2949	broad.mit.edu	37	1	110256309	110256309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:110256309C>T	ENST00000369813.1	+	3	1068	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	GSTM5_ENST00000369812.5_Missense_Mutation_p.R115C|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.R96C			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	96	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.R96C(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGAGAAGATTCGTGTGGACAT	0.542000													11	25					0	0	0.024245	0	0
ZNF142	7701	broad.mit.edu	37	2	219508926	219508926	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219508926G>A	ENST00000411696.2	-	7	3092	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	ZNF142_ENST00000449707.1_Silent_p.S771S			P52746	ZN142_HUMAN	zinc finger protein 142	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCCTCTAAGGATGGAGGAT	0.493000													16	75					0	0	0.004990	0	0
ABCG5	64240	broad.mit.edu	37	2	44053607	44053607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:44053607G>A	ENST00000260645.1	-	6	827	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	230	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGACAATCTGATTAGCAGTC	0.532000													36	112					0	0	0.027894	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434112	22434112	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:22434112C>T	ENST00000390442.3	+	0	221																											TTCAATACTTCATGTGGTACA	0.463000													14	74					0	0	0.016723	0	0
GPR179	440435	broad.mit.edu	37	17	36484681	36484681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:36484681C>T	ENST00000342292.4	-	11	4791	c.4771G>A	c.(4771-4773)Gaa>Aaa	p.E1591K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1591						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGACAGATTTCTGTTTTGGCA	0.502000													21	106					0	0	0.016522	0	0
BMP5	653	broad.mit.edu	37	6	55739532	55739532	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:55739532C>T	ENST00000370830.3	-	1	830	c.132G>A	c.(130-132)cgG>cgA	p.R44R	BMP5_ENST00000446683.2_Silent_p.R44R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	44					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTCGTGGTTCCGTAGTCTTC	0.458000													12	75					0	0	0.010729	0	0
APOBR	55911	broad.mit.edu	37	16	28507134	28507134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28507134G>A	ENST00000564831.1	+	2	805	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	APOBR_ENST00000328423.5_Missense_Mutation_p.E258K|APOBR_ENST00000431282.1_Missense_Mutation_p.E258K	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	258	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAAGGCCTGTGAAAGCACTAG	0.637000													4	7					0	0	0.014758	0	0
OR10P1	121130	broad.mit.edu	37	12	56031320	56031320	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:56031320T>C	ENST00000309675.2	+	1	677	c.645T>C	c.(643-645)atT>atC	p.I215I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTCTCTGATTGTCACCTCTT	0.572000													16	67					0	0	0.028581	0	0
KMT2D	8085	broad.mit.edu	37	12	49445231	49445231	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:49445231G>A	ENST00000301067.7	-	10	2234	c.2235C>T	c.(2233-2235)ccC>ccT	p.P745P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTCAGGCCGGGGTGACAGGT	0.697000													11	30					0	0	0.013537	0	0
MIR519C	574466	broad.mit.edu	37	19	54189747	54189747	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:54189747G>A	ENST00000385053.1	+	0	25					NR_030188.1																						CCTCTAGAGGGAAGCGCTTTC	0.393000													23	119					0	0	0.027356	0	0
ZC3H6	376940	broad.mit.edu	37	2	113060816	113060816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:113060816C>T	ENST00000409871.1	+	3	625	c.224C>T	c.(223-225)cCa>cTa	p.P75L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P75L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	75							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CATAATTCCCCATCTAGTGAT	0.363000													10	83					0	0	0.010729	0	0
LARP1	23367	broad.mit.edu	37	5	154092534	154092534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:154092534G>A	ENST00000336314.4	+	1	73	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	280							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCTCACCCAGAGCTGGATTT	0.592000													7	49					0	0	0.003080	0	0
OR2M7	391196	broad.mit.edu	37	1	248487554	248487554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248487554G>A	ENST00000317965.2	-	1	345	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAAGCAATGATATATAGAA	0.458000													51	161					0	0	0.014410	0	0
SUSD2	56241	broad.mit.edu	37	22	24583706	24583706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:24583706C>T	ENST00000358321.3	+	12	2320	c.2059C>T	c.(2059-2061)Cat>Tat	p.H687Y		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	687					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGGGGACGATCATTTCTGCAA	0.627000													10	47					0	0	0.006214	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543123	34543123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:34543123C>T	ENST00000354181.3	-	11	1961	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	SLC12A6_ENST00000397702.2_Missense_Mutation_p.G431E|SLC12A6_ENST00000397707.2_Missense_Mutation_p.G475E|SLC12A6_ENST00000458406.2_Missense_Mutation_p.G431E|SLC12A6_ENST00000560611.1_Missense_Mutation_p.G490E|SLC12A6_ENST00000560164.1_Missense_Mutation_p.G302E|SLC12A6_ENST00000451844.2_Missense_Mutation_p.G302E|SLC12A6_ENST00000290209.5_Missense_Mutation_p.G439E|SLC12A6_ENST00000558589.1_Missense_Mutation_p.G481E|SLC12A6_ENST00000558667.1_Missense_Mutation_p.G490E			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	490					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAAGAAGATTCCCACCAGAAG	0.428000													4	31					0	0	0.009096	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107502	69107502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:69107502C>T	ENST00000332644.5	-	2	190	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	10					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGCCAAGATCTTTGGGAAGA	0.403000													6	51					0	0	0.001984	0	0
ESPNP	284729	broad.mit.edu	37	1	17033787	17033787	+	RNA	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:17033787T>C	ENST00000492551.1	-	0	691					NR_026567.1																						TCGTACCAGGTTCTCCACCGT	0.647000													4	10					0	0	0.021553	0	0
CACNA1S	779	broad.mit.edu	37	1	201042677	201042677	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:201042677C>T	ENST00000362061.3	-	15	2383	c.2157_splice	c.e15+1	p.K719_splice	CACNA1S_ENST00000367338.3_Splice_Site_p.K719_splice	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	719					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGTGCTCACCTTGGCAGTGG	0.572000													86	246					0	0	0.014410	0	0
CD163L1	283316	broad.mit.edu	37	12	7521994	7521994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:7521994C>T	ENST00000313599.3	-	15	4055	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N	CD163L1_ENST00000416109.2_Missense_Mutation_p.S1343N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1333N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1333	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACAGTCACTCTGTCCCCA	0.517000													19	70					0	0	0.008871	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675068	40675068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:40675068G>A	ENST00000416151.2	+	1	147	c.32G>A	c.(31-33)aGa>aAa	p.R11K	KNSTRN_ENST00000249776.8_Missense_Mutation_p.R11K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R11K	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CCCCTGGACAGAGTTTTCCGT	0.592000													6	14					0	0	0.021553	0	0
OR51F2	119694	broad.mit.edu	37	11	4843347	4843347	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:4843347C>T	ENST00000322110.5	+	1	797	c.732C>T	c.(730-732)tcC>tcT	p.S244S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTGCTTCCTCAGAAGAGA	0.498000													8	40					0	0	0.003080	0	0
OR2W1	26692	broad.mit.edu	37	6	29012592	29012592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29012592C>T	ENST00000377175.1	-	1	425	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTAAAACGATCATAGGACATA	0.403000													12	17					0	0	0.013537	0	0
RTDR1	27156	broad.mit.edu	37	22	23401850	23401850	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:23401850C>A	ENST00000216036.4	-	7	1033	c.837G>T	c.(835-837)gaG>gaT	p.E279D		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	279							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGTGCAGCAGCTCCAGGAGCA	0.657000													12	66					0.00316338	0.00342901	0.024245	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829553	146829553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:146829553C>T	ENST00000361727.3	+	8	1816	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	434	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTGGGTGTTCACATCAACAT	0.428000										HNSCC(39;0.1)			6	18					0	0	0.004482	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366011	7366011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7366011G>A	ENST00000311403.4	-	4	2629	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R764C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGTAAAGCGGGTGGAGGGC	0.706000													14	62					0	0	0.020292	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956649	102956649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:102956649G>A	ENST00000311734.2	+	4	703	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	122	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATTCAACAGTATCTGGATC	0.343000													5	20					0	0	0.014758	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564729	100564729	+	RNA	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:100564729T>C	ENST00000397112.4	-	0	584					NR_036632.1															large_intestine(1)|lung(3)	4						AACTGCTCCCTTAGGGCTCCC	0.488000													11	50					0	0	0.013537	0	0
ARNT	405	broad.mit.edu	37	1	150788808	150788808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:150788808G>A	ENST00000358595.5	-	19	2077	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ARNT_ENST00000354396.2_Missense_Mutation_p.S624F|ARNT_ENST00000515192.1_Missense_Mutation_p.S612F|ARNT_ENST00000505755.1_Missense_Mutation_p.S611F	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	626					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGTGGCGGGAAATCTGGGC	0.522000			T	ETV6	AML								13	29					0	0	0.013537	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692684	47692684	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:47692684G>A	ENST00000397708.1	-	9	2510	c.2256C>T	c.(2254-2256)acC>acT	p.T752T	MCM3AP_ENST00000291688.1_Silent_p.T752T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	752					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTGAAACCGGGTGCACTTCT	0.552000													14	55					0	0	0.016723	0	0
KCNK1	3775	broad.mit.edu	37	1	233802600	233802600	+	Silent	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:233802600C>A	ENST00000366621.3	+	2	783	c.615C>A	c.(613-615)gtC>gtA	p.V205V	KCNK1_ENST00000366620.1_Silent_p.V89V|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	205						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTTCTCAGTCCTGGAGGATG	0.532000													12	76					4.93089e-13	5.456e-13	0.020292	1	0
FOLR4	390243	broad.mit.edu	37	11	94040624	94040624	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:94040624C>T	ENST00000440961.2	+	4	542	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	173						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCAGTGCCTCCCTTTCTCCC	0.597000													7	37					0	0	0.001984	0	0
OR6N1	128372	broad.mit.edu	37	1	158736065	158736065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:158736065C>T	ENST00000335094.2	-	1	427	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTGTTGGGGTCATGAGGGTTG	0.527000													7	23					0	0	0.004482	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638438	48638438	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:48638438G>A	ENST00000203407.5	-	8	1352	c.936C>T	c.(934-936)ggC>ggT	p.G312G		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	312					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AGTCATAGTGGCCGATGATGG	0.607000													7	12					0	0	0.003080	0	0
RNF213	57674	broad.mit.edu	37	17	78291019	78291019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:78291019C>T	ENST00000582970.1	+	16	2986	c.2843C>T	c.(2842-2844)cCc>cTc	p.P948L	RNF213_ENST00000319921.4_Missense_Mutation_p.P948L|RNF213_ENST00000456466.1_Missense_Mutation_p.P948L|RNF213_ENST00000508628.2_Missense_Mutation_p.P997L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	948										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCCAATTCCCCGCGGAGCAT	0.562000													12	45					0	0	0.024245	0	0
LILRA2	11027	broad.mit.edu	37	19	55086898	55086898	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55086898G>A	ENST00000251377.3	+	6	964	c.831G>A	c.(829-831)caG>caA	p.Q277Q	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Q277Q|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.Q277Q|LILRA2_ENST00000391737.1_Silent_p.Q265Q					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGCTCTCCCAGGCCAACTTCA	0.622000													20	50					0	0	0.008871	0	0
LSM14A	26065	broad.mit.edu	37	19	34699852	34699852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:34699852C>T	ENST00000544216.3	+	4	511	c.434C>T	c.(433-435)tCc>tTc	p.S145F	LSM14A_ENST00000433627.5_Missense_Mutation_p.S145F|LSM14A_ENST00000540746.2_Intron	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	145					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCTTTGACATCCTTTGGAACA	0.323000													5	17					0	0	0.014758	0	0
LASP1	3927	broad.mit.edu	37	17	37070713	37070713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:37070713C>T	ENST00000318008.6	+	5	824	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	LASP1_ENST00000435347.3_Missense_Mutation_p.P165S|LASP1_ENST00000433206.2_Missense_Mutation_p.P109S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	165						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						TCACCACATCCCGACCAGTGC	0.672000			T	MLL	AML								10	32					0	0	0.013537	0	0
GCSH	2653	broad.mit.edu	37	16	81121264	81121264	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:81121264C>T	ENST00000315467.3	-	3	358	c.234G>A	c.(232-234)gcG>gcA	p.A78A	GCSH_ENST00000566566.1_Silent_p.A78A	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	78						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	CATCTCCCAACGCTTCCTAAA	0.358000													8	24					0	0	0.004482	0	0
TRIB1	10221	broad.mit.edu	37	8	126445567	126445567	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:126445567C>T	ENST00000311922.3	+	2	951	c.369C>T	c.(367-369)ccC>ccT	p.P123P	TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	123	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGGTGTTTCCCATTAAACACT	0.522000													51	259					0	0	0.014410	0	0
HRH1	3269	broad.mit.edu	37	3	11301562	11301562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:11301562C>T	ENST00000397056.1	+	3	1030	c.839C>T	c.(838-840)cCc>cTc	p.P280L	HRH1_ENST00000431010.2_Missense_Mutation_p.P280L|HRH1_ENST00000438284.2_Missense_Mutation_p.P280L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	280					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCCCAAACCCCCAAGGAGATG	0.493000													6	42					0	0	0.003080	0	0
TNRC6C	57690	broad.mit.edu	37	17	76063945	76063945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:76063945C>T	ENST00000335749.4	+	5	3279	c.2710C>T	c.(2710-2712)Caa>Taa	p.Q904*	TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.Q907*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.Q907*|TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.Q904*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.Q904*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.Q907*	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	907	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCTGCTTCCCAAGAAAGCAC	0.517000													10	42					0	0	0.006214	0	0
CCDC135	84229	broad.mit.edu	37	16	57760123	57760123	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:57760123C>T	ENST00000360716.3	+	14	2123	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	CCDC135_ENST00000394337.4_Silent_p.F634F|CCDC135_ENST00000336825.8_Silent_p.F569F			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	634						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCGCGAGTTCCTGCGGCGCA	0.657000													9	32					0	0	0.008291	0	0
LUZP2	338645	broad.mit.edu	37	11	25100118	25100118	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:25100118T>C	ENST00000533227.1	+	12	984	c.697T>C	c.(697-699)Tgc>Cgc	p.C233R	LUZP2_ENST00000336930.6_Missense_Mutation_p.C319R	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	319						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATGCCTCCTTGCTCTGAATG	0.328000													11	32					0	0	0.013537	0	0
OLFM4	10562	broad.mit.edu	37	13	53624636	53624636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:53624636G>A	ENST00000219022.2	+	5	1341	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	421	Olfactomedin-like.				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)		TAAACACTTGGTATACCAAGC	0.413000													9	48					0	0	0.010729	0	0
APOB	338	broad.mit.edu	37	2	21245744	21245744	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:21245744G>A	ENST00000233242.1	-	18	2902	c.2775C>T	c.(2773-2775)atC>atT	p.I925I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	925	Heparin-binding.				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)	GGGAAGGAATGATAAACTTCA	0.502000													56	181					0	0	0.014410	0	0
SULF2	55959	broad.mit.edu	37	20	46365545	46365545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:46365545G>A	ENST00000359930.4	-	3	1168	c.317C>T	c.(316-318)aCc>aTc	p.T106I	SULF2_ENST00000361612.4_Missense_Mutation_p.T106I|SULF2_ENST00000467815.1_Missense_Mutation_p.T106I|SULF2_ENST00000484875.1_Missense_Mutation_p.T106I|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	106					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						GTTGGTGTAGGTGTTGTGGTT	0.602000													13	27					0	0	0.020292	0	0
ARAF	369	broad.mit.edu	37	X	47426077	47426077	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:47426077C>T	ENST00000377045.4	+	7	791	c.597C>T	c.(595-597)ttC>ttT	p.F199F	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	199					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACTTCCCCTTCCCTGCCCCAG	0.637000													4	11					0	0	0.014758	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319155	21319155	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:21319155C>T	ENST00000583088.1	+	3	1396	c.501C>T	c.(499-501)atC>atT	p.I167I	KCNJ12_ENST00000331718.5_Silent_p.I167I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCCAGTCCATCGTGGGCTGCA	0.617000										Prostate(3;0.18)			4	36					0	0	0.009096	0	0
SIRPG	55423	broad.mit.edu	37	20	1630035	1630035	+	Silent	SNP	C	C	T	rs150700648	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:1630035C>T	ENST00000303415.3	-	2	157	c.93G>A	c.(91-93)gaG>gaA	p.E31E	SIRPG_ENST00000216927.4_Silent_p.E31E|SIRPG_ENST00000344103.4_Silent_p.E31E|SIRPG_ENST00000381583.2_Silent_p.E31E|SIRPG_ENST00000381580.1_5'UTR	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	31	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCATCTGTAGCTCCTCCTCAC	0.473000													12	35					0	0	0.013537	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192239	125192239	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:125192239G>A	ENST00000431078.1	+	5	1072	c.708G>A	c.(706-708)ggG>ggA	p.G236G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	236	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)		TCCAGAAGGGGAGGCTCGCCC	0.532000													6	13					0	0	0.021553	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599645	136599645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:136599645G>A	ENST00000531224.1	-	4	626	c.374C>T	c.(373-375)tCc>tTc	p.S125F	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S123F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S125F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S123F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S123F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S125F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	125					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGCTTCTGGATCTTTGAGA	0.448000													13	129					0	0	0.024245	0	0
OGT	8473	broad.mit.edu	37	X	70781690	70781690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:70781690G>A	ENST00000373719.3	+	15	2134	c.1917G>A	c.(1915-1917)atG>atA	p.M639I	OGT_ENST00000373701.3_Missense_Mutation_p.M629I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	639					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTGTAAATATGAATGGCTATA	0.373000													6	22					0	0	0.021553	0	0
ARMC4	55130	broad.mit.edu	37	10	28233336	28233336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:28233336C>T	ENST00000305242.5	-	12	1650	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ARMC4_ENST00000537576.1_Missense_Mutation_p.E212K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E45K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	520							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGACTGATTTCCTTCAGTATT	0.343000													6	21					0	0	0.001984	0	0
DSG1	1828	broad.mit.edu	37	18	28914045	28914045	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:28914045G>A	ENST00000257192.4	+	8	1097	c.885G>A	c.(883-885)ttG>ttA	p.L295L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	295	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAATTGATTTGGATGAAGAGT	0.323000													13	41					0	0	0.013537	0	0
GRM2	2912	broad.mit.edu	37	3	51751692	51751692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51751692G>A	ENST00000395052.3	+	5	2638	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.G524S	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	802					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAGCCTCAGCGGCTCCGTGGT	0.632000													8	19					0	0	0.006214	0	0
MYH4	4622	broad.mit.edu	37	17	10352002	10352002	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:10352002C>T	ENST00000255381.2	-	32	4574	c.4464G>A	c.(4462-4464)gtG>gtA	p.V1488V	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	1488					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						AGGCATTCTTCACCTTGAACA	0.443000													15	51					0	0	0.020292	0	0
ZW10	9183	broad.mit.edu	37	11	113608318	113608318	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:113608318G>A	ENST00000200135.3	-	14	2136	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	664					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTTTGCCAATGACCTCAGAAA	0.423000													16	61					0	0	0.004990	0	0
KRT33A	3883	broad.mit.edu	37	17	39506827	39506827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:39506827C>T	ENST00000007735.3	-	1	237	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	65	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622000													11	82					0	0	0.013537	0	0
LCE3D	84648	broad.mit.edu	37	1	152552270	152552270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152552270G>A	ENST00000368787.3	-	2	199	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	48					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCGCCCTCGGAGCTAGGGCC	0.667000													16	43					0	0	0.004990	0	0
RTEL1	51750	broad.mit.edu	37	20	62324619	62324619	+	Missense_Mutation	SNP	C	C	T	rs143967591	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:62324619C>T	ENST00000318100.4	+	30	3802	c.2975C>T	c.(2974-2976)cCg>cTg	p.P992L	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P992L|RTEL1_ENST00000360203.5_Missense_Mutation_p.P992L|RTEL1_ENST00000370018.3_Missense_Mutation_p.P992L|RTEL1_ENST00000370003.1_Missense_Mutation_p.P237L|RTEL1_ENST00000508582.2_Missense_Mutation_p.P1016L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	992					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGGGCACAGCCGGTCCTGGAC	0.637000													15	64					0	0	0.006122	0	0
FFAR3	2865	broad.mit.edu	37	19	35850335	35850335	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:35850335C>T	ENST00000327809.4	+	2	744	c.543C>T	c.(541-543)ctC>ctT	p.L181L	FFAR3_ENST00000594310.1_Silent_p.L181L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	181						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TAGCCATCCTCCTGCCCGTGC	0.612000													4	22					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9012861	9012861	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:9012861G>A	ENST00000397910.4	-	34	38786	c.38583C>T	c.(38581-38583)ttC>ttT	p.F12861F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12863	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGATGGTGAAGTTGAGGG	0.532000													27	105					0	0	0.024334	0	0
WDR44	54521	broad.mit.edu	37	X	117527161	117527161	+	Silent	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:117527161T>A	ENST00000254029.3	+	4	1148	c.753T>A	c.(751-753)tcT>tcA	p.S251S	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Silent_p.S251S|WDR44_ENST00000371822.5_Silent_p.S226S	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	251	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CACCTCCTTCTCGACCTGCTC	0.463000													19	124					0	0	0.016522	0	0
LAMA1	284217	broad.mit.edu	37	18	6973109	6973109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:6973109C>T	ENST00000389658.3	-	47	6814	c.6721G>A	c.(6721-6723)Gat>Aat	p.D2241N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2241	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTTACATCCAGAACATTA	0.373000													10	62					0	0	0.013537	0	0
DNMT1	1786	broad.mit.edu	37	19	10250810	10250810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:10250810G>A	ENST00000340748.4	-	32	3905	c.3670C>T	c.(3670-3672)Ccg>Tcg	p.P1224S	DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1224S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1240S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1224	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGGCAGGGCGGCCCGCCGCAC	0.612000													7	37					0	0	0.004482	0	0
PEMT	10400	broad.mit.edu	37	17	17425608	17425608	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:17425608G>A	ENST00000395781.2	-	3	387	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PEMT_ENST00000435340.2_Silent_p.F80F|PEMT_ENST00000395783.1_Silent_p.F65F|PEMT_ENST00000395782.1_Silent_p.F65F|PEMT_ENST00000255389.5_Silent_p.F102F	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	65					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GCGAGCGCAGGAAGTTCAGGA	0.622000													4	21					0	0	0.009096	0	0
ACTL8	81569	broad.mit.edu	37	1	18149517	18149517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:18149517C>T	ENST00000375406.1	+	2	230	c.14C>T	c.(13-15)aCc>aTc	p.T5I		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	5						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCTGCAAGAACCGTTATCATT	0.587000													4	25					0	0	0.009096	0	0
A1CF	29974	broad.mit.edu	37	10	52573658	52573658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:52573658G>A	ENST00000395489.2	-	12	1681	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	A1CF_ENST00000395495.1_Missense_Mutation_p.P381S|A1CF_ENST00000374001.1_Missense_Mutation_p.P428S|A1CF_ENST00000282641.2_Missense_Mutation_p.P436S|A1CF_ENST00000373997.3_Missense_Mutation_p.P428S|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.P436S|A1CF_ENST00000373995.3_Missense_Mutation_p.P436S|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	436					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.P428S(1)|p.P436S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AATGTGACAGGATTCATTGGG	0.438000													15	50					0	0	0.004990	0	0
SMS	6611	broad.mit.edu	37	X	22010804	22010804	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:22010804C>T	ENST00000404933.2	+	10	1287	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SMS_ENST00000415881.2_Silent_p.I249I|SMS_ENST00000379404.1_Silent_p.I292I	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	345					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAAAGGAGATCGTCTGTGTCC	0.423000													9	46					0	0	0.010729	0	0
RET	5979	broad.mit.edu	37	10	43609123	43609123	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:43609123G>A	ENST00000355710.3	+	10	2111	c.1879_splice	c.e10+1	p.D627_splice	RET_ENST00000340058.5_Splice_Site_p.D627_splice	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	627					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGACATCCAGGGTGAGTGGGT	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	11					0	0	0.001984	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193724	193724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:193724G>A	ENST00000342878.2	+	2	88	c.68G>A	c.(67-69)gGg>gAg	p.G23E	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	23						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGGCCACAGGGGAGGACAAC	0.582000													5	41					0	0	0.014758	0	0
POF1B	79983	broad.mit.edu	37	X	84585958	84585958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:84585958C>T	ENST00000262753.4	-	7	996	c.851G>A	c.(850-852)gGa>gAa	p.G284E	POF1B_ENST00000373145.3_Missense_Mutation_p.G284E	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	284							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACAGTACCTTCCTCCAATTCT	0.358000													4	27					0	0	0.009096	0	0
PDGFC	56034	broad.mit.edu	37	4	157693945	157693945	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:157693945A>G	ENST00000502773.1	-	4	1086	c.596T>C	c.(595-597)cTt>cCt	p.L199P	PDGFC_ENST00000541126.1_Missense_Mutation_p.L36P|PDGFC_ENST00000422544.2_Missense_Mutation_p.L199P|PDGFC_ENST00000542208.1_Missense_Mutation_p.L44P|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	199					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATATCGAATAAGGTCTTCCAA	0.428000													6	23					0	0	0.001984	0	0
OR10P1	121130	broad.mit.edu	37	12	56031319	56031319	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:56031319T>A	ENST00000309675.2	+	1	676	c.644T>A	c.(643-645)aTt>aAt	p.I215N		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCTCTCTGATTGTCACCTCT	0.567000													16	68					0	0	0.028581	0	0
KCNB2	9312	broad.mit.edu	37	8	73850111	73850111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:73850111G>A	ENST00000523207.1	+	3	3109	c.2521G>A	c.(2521-2523)Ggg>Agg	p.G841R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	841					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)			GCCTAGTGATGGGAGAGACCC	0.527000													9	47					0	0	0.004482	0	0
ZNF567	163081	broad.mit.edu	37	19	37210565	37210565	+	Silent	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:37210565A>G	ENST00000585696.1	+	3	2076	c.846A>G	c.(844-846)gaA>gaG	p.E282E	ZNF567_ENST00000536254.2_Silent_p.E313E|ZNF567_ENST00000588311.1_Silent_p.E282E|ZNF567_ENST00000392163.2_Silent_p.E282E|ZNF567_ENST00000360729.4_Silent_p.E282E|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTGCAATGAATGTGGTAAGT	0.423000													7	29					0	0	0.004482	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			23	89					1.9806e-07	2.17738e-07	0.014323	1	0
GUCY2F	2986	broad.mit.edu	37	X	108696928	108696928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:108696928G>A	ENST00000218006.2	-	4	1484	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	398					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATTTCCATTTGAATCTGTCCT	0.438000													9	35					0	0	0.004482	0	0
PIGK	10026	broad.mit.edu	37	1	77632478	77632478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:77632478C>T	ENST00000370812.3	-	5	436	c.413G>A	c.(412-414)aGg>aAg	p.R138K	PIGK_ENST00000445065.1_Missense_Mutation_p.R44K|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.R138K|PIGK_ENST00000370813.5_Missense_Mutation_p.R62K	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	138					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGGTGGGATCCTCCCAGTTAA	0.338000													7	18					0	0	0.013537	0	0
OR52M1	119772	broad.mit.edu	37	11	4567353	4567353	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:4567353G>A	ENST00000360213.1	+	1	933	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATACCAAGGATAGAAATGA	0.413000													7	20					0	0	0.003080	0	0
ROBO2	6092	broad.mit.edu	37	3	77645877	77645877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:77645877G>A	ENST00000461745.1	+	19	3730	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E960K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E944K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	944					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGCCCAAATGAGATTGGAAA	0.408000													16	52					0	0	0.007413	0	0
APOB	338	broad.mit.edu	37	2	21230175	21230175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:21230175G>A	ENST00000233242.1	-	26	9692	c.9565C>T	c.(9565-9567)Cct>Tct	p.P3189S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3189	Heparin-binding.				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)	ACAGCCAAAGGATTTGTGATG	0.348000													70	237					0	0	0.014410	0	0
TAF1L	138474	broad.mit.edu	37	9	32633900	32633900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:32633900G>A	ENST00000242310.4	-	1	1767	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	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)		TTGCCCAAGAGAATTCGACTC	0.448000													40	92					0	0	0.027894	0	0
NTRK3	4916	broad.mit.edu	37	15	88423566	88423566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:88423566C>T	ENST00000394480.1	-	18	2548	c.2227G>A	c.(2227-2229)Ggg>Agg	p.G743R	NTRK3_ENST00000355254.2_Missense_Mutation_p.G743R|NTRK3_ENST00000360948.2_Missense_Mutation_p.G757R|NTRK3_ENST00000357724.2_Missense_Mutation_p.G749R|NTRK3_ENST00000557856.1_Missense_Mutation_p.G735R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	757	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGATCACCCCGAAGCTCCAT	0.517000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			13	52					0	0	0.013537	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:70359506G>A	ENST00000305107.6	-	2	821	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.R123*|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.R259*|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000													12	34					0	0	0.010729	0	0
OR51A2	401667	broad.mit.edu	37	11	4976283	4976283	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:4976283G>A	ENST00000380371.1	-	1	660	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGAGGATCAGGGTGTAAGAC	0.428000													6	35					0	0	0.001984	0	0
PANX3	116337	broad.mit.edu	37	11	124489648	124489648	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:124489648C>T	ENST00000284288.2	+	4	1063	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	332					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TCCTTCTTTTCCTCCGAGCTA	0.438000													7	33					0	0	0.001984	0	0
SNRK	54861	broad.mit.edu	37	3	43381975	43381975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:43381975C>T	ENST00000296088.7	+	5	1232	c.928C>T	c.(928-930)Cga>Tga	p.R310*	SNRK_ENST00000454177.1_Nonsense_Mutation_p.R310*|SNRK_ENST00000437827.1_Nonsense_Mutation_p.R104*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R310*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATAGCGGATCGAGACGCCAT	0.483000													5	18					0	0	0.021553	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:56757090G>A	ENST00000326855.2	+	1	744	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423000													16	47					0	0	0.028581	0	0
LILRP2	79166	broad.mit.edu	37	19	55221644	55221644	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55221644C>T	ENST00000413439.1	+	0	1415																											AGGTGAGGAGCCCAGCAGGTT	0.677000													18	15					0	0	0.007413	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446612	107446612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:107446612G>A	ENST00000409382.3	-	5	1838	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H410Y|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H410Y	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	410					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AATTTAGGATGAAGAATGTAA	0.373000													30	51					0	0	0.006320	0	0
FGD3	89846	broad.mit.edu	37	9	95768347	95768347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:95768347C>T	ENST00000375482.3	+	6	1218	c.722C>T	c.(721-723)gCc>gTc	p.A241V	FGD3_ENST00000337352.6_Missense_Mutation_p.A241V|FGD3_ENST00000416701.2_Missense_Mutation_p.A241V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	241	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGAAGCTGGCCCCATTCCTG	0.547000													16	53					0	0	0.028581	0	0
CBL	867	broad.mit.edu	37	11	119170400	119170400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:119170400C>T	ENST00000264033.4	+	16	3006	c.2630C>T	c.(2629-2631)gCt>gTt	p.A877V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	877	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATCCAGAAAGCTTTGGTCATT	0.532000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				35	190					0	0	0.023175	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558382	140558382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140558382G>A	ENST00000239444.2	+	1	1012	c.767G>A	c.(766-768)aGt>aAt	p.S256N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		256	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGAGGACAGTCCAATAAGC	0.458000													23	107					0	0	0.027356	0	0
RPTN	126638	broad.mit.edu	37	1	152127768	152127768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152127768C>T	ENST00000316073.3	-	3	1871	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	603	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTCTTGTTCCTTCAGTCCCT	0.453000													42	113					0	0	0.008740	0	0
NOTCH3	4854	broad.mit.edu	37	19	15300099	15300099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:15300099C>T	ENST00000263388.2	-	7	1252	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	393	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAGCACTCGTCCACATCCTGG	0.632000													18	65					0	0	0.010504	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822407	26822407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:26822407G>A	ENST00000376236.4	+	9	1308	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	285					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAAGCAAGGAAACTAATGA	0.333000													4	19					0	0	0.021553	0	0
SPTB	6710	broad.mit.edu	37	14	65253310	65253310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:65253310C>T	ENST00000389722.3	-	15	3426	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	SPTB_ENST00000556626.1_Missense_Mutation_p.E1125K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1125K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1125K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1125K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1125					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATCACTTTCTCCCCAGACTCC	0.592000													3	15					0	0	0.004672	0	0
ZFP42	132625	broad.mit.edu	37	4	188924380	188924380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:188924380C>T	ENST00000326866.4	+	4	827	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ZFP42_ENST00000509524.1_Missense_Mutation_p.S140L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAGAGAATTCGCTTGAGTAT	0.423000													16	56					0	0	0.024245	0	0
RLF	6018	broad.mit.edu	37	1	40702247	40702247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:40702247C>T	ENST00000372771.4	+	8	1900	c.1873C>T	c.(1873-1875)Caa>Taa	p.Q625*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	625					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAAGGCTCTCAAAAGGGTAT	0.408000													5	30					0	0	0.014758	0	0
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G	rs147063988	by1000genomes	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443000													4	44					0	0	0.014758	0	0
IL17F	112744	broad.mit.edu	37	6	52103617	52103617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:52103617C>T	ENST00000336123.4	-	2	272	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	55					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGTCAAGCTTCATACTACCTC	0.502000													27	33					0	0	0.027356	0	0
RP1	6101	broad.mit.edu	37	8	55540151	55540151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:55540151G>A	ENST00000220676.1	+	4	3857	c.3709G>A	c.(3709-3711)Gga>Aga	p.G1237R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1237					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCTTTGGATGGAGGTTGCTC	0.448000													19	68					0	0	0.012319	0	0
METTL15	196074	broad.mit.edu	37	11	28311899	28311899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:28311899C>T	ENST00000342303.5	+	5	1009	c.554C>T	c.(553-555)tCc>tTc	p.S185F	METTL15_ENST00000303459.6_Missense_Mutation_p.S185F|METTL15_ENST00000407364.3_Missense_Mutation_p.S185F|METTL15_ENST00000406787.3_Missense_Mutation_p.S185F	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	185							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGAGGTTTTTCCCTTCGGAAA	0.408000													22	95					0	0	0.024334	0	0
DUSP2	1844	broad.mit.edu	37	2	96809623	96809623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:96809623G>A	ENST00000288943.4	-	4	969	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	295	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GAAGTTGGGGGAGATGACCCC	0.622000													4	14					0	0	0.009096	0	0
PDPN	10630	broad.mit.edu	37	1	13936941	13936941	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:13936941A>T	ENST00000294489.6	+	3	830	c.489A>T	c.(487-489)gaA>gaT	p.E163D	PDPN_ENST00000376057.4_Missense_Mutation_p.E163D|PDPN_ENST00000487038.1_Missense_Mutation_p.E45D|PDPN_ENST00000376061.4_Missense_Mutation_p.E45D|PDPN_ENST00000513143.1_Missense_Mutation_p.E45D|PDPN_ENST00000475043.1_Missense_Mutation_p.E45D|PDPN_ENST00000509009.1_Missense_Mutation_p.E82D			Q86YL7	PDPN_HUMAN	podoplanin	87					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CAACTTCAGAAAGCACAGTCC	0.507000													9	27					0	0	0.006214	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877120	24877120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:24877120C>T	ENST00000382554.3	+	3	562	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	82					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAAAGAGGTTCGCTACCCACC	0.637000													10	47					0	0	0.010729	0	0
ABLIM1	3983	broad.mit.edu	37	10	116247758	116247758	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:116247758G>C	ENST00000533213.2	-	8	1121	c.820C>G	c.(820-822)Ccc>Gcc	p.P274A	ABLIM1_ENST00000277895.5_Missense_Mutation_p.P334A|ABLIM1_ENST00000369266.3_Missense_Mutation_p.P18A|ABLIM1_ENST00000369252.4_Missense_Mutation_p.P274A|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P18A|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P18A			O14639	ABLM1_HUMAN	actin binding LIM protein 1	334	LIM zinc-binding 3.				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)		TTACAGTCGGGATGCCAAACG	0.483000													6	82					0	0	0.001984	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167787	140167787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140167787G>A	ENST00000504120.2	+	1	1912	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D638N	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)			TCGTGTCCTGGACGAGGCTGA	0.652000													14	50					0	0	0.024245	0	0
ZFR	51663	broad.mit.edu	37	5	32407028	32407028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:32407028C>T	ENST00000265069.8	-	6	985	c.883G>A	c.(883-885)Gct>Act	p.A295T		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	295	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		gcagcagcagcagctgctgct	0.488000													6	13					0	0	0.021553	0	0
PTPN2	5771	broad.mit.edu	37	18	12840734	12840734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:12840734C>T	ENST00000591497.1	-	2	304	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PTPN2_ENST00000309660.5_Intron|PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591115.1_Intron			P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	0	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				ATTCTGCATTCCATGTCTCCC	0.423000													9	20					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9063534	9063534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:9063534G>A	ENST00000397910.4	-	3	24115	c.23912C>T	c.(23911-23913)tCc>tTc	p.S7971F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7973	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAGAAAAGGAAGGTCTAGT	0.478000													7	26					0	0	0.003080	0	0
ACAN	176	broad.mit.edu	37	15	89416190	89416190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:89416190G>A	ENST00000439576.2	+	16	7641	c.7267G>A	c.(7267-7269)Gag>Aag	p.E2423K	ACAN_ENST00000559004.1_Missense_Mutation_p.E2385K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2385K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2423K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2423					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATCTGGCACGAGAAGGGCGA	0.572000													6	16					0	0	0.021553	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687308	8687308	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:8687308T>C	ENST00000299663.3	-	6	751	c.586A>G	c.(586-588)Acc>Gcc	p.T196A	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.T151A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	196	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGGAAACAGGTTACATCATTC	0.418000													16	45					0	0	0.024245	0	0
ITLN1	55600	broad.mit.edu	37	1	160854622	160854622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:160854622C>T	ENST00000326245.3	-	2	161	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	16					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTACTCCATCCTCTGGTGGTC	0.493000													23	127					0	0	0.024334	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855988	12855988	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:12855988T>C	ENST00000332296.7	+	4	1371	c.1268T>C	c.(1267-1269)gTt>gCt	p.V423A	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.V178A	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	423										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTCCTTGGTTCGTGTCAAT	0.562000													14	155					0	0	0.007413	0	0
SLC7A9	11136	broad.mit.edu	37	19	33321549	33321549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:33321549G>A	ENST00000023064.4	-	13	1632	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	SLC7A9_ENST00000587772.1_Missense_Mutation_p.P481S|SLC7A9_ENST00000590341.1_Missense_Mutation_p.P481S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	481					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TCCTCCGGTGGGACCACTTCC	0.393000													21	59					0	0	0.024334	0	0
MS4A8	83661	broad.mit.edu	37	11	60470945	60470945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:60470945G>A	ENST00000300226.2	+	3	517	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		TCATTCTACGGAGGCTTTCCC	0.562000													17	78					0	0	0.008871	0	0
FOXK1	221937	broad.mit.edu	37	7	4780522	4780522	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:4780522A>G	ENST00000328914.4	+	2	614	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	FOXK1_ENST00000446823.1_Missense_Mutation_p.Y42C	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	205					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACGTCGCTCTATCACAAAGAA	0.617000													28	106					0	0	0.006320	0	0
DENND1A	57706	broad.mit.edu	37	9	126144351	126144351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:126144351G>A	ENST00000373624.2	-	22	2591	c.2390C>T	c.(2389-2391)aCc>aTc	p.T797I	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.T582I|DENND1A_ENST00000394219.3_Missense_Mutation_p.T808I	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	797	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGACGGGAGGGTGCTGCCTGA	0.701000													7	19					0	0	0.004482	0	0
PCED1B	91523	broad.mit.edu	37	12	47628897	47628897	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:47628897C>T	ENST00000546455.1	+	4	782	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PCED1B_ENST00000432328.1_Silent_p.F17F					PC-esterase domain containing 1B									p.F17F(2)									ACAATAAGTTCGTGGTCATCC	0.592000													5	17					0	0	0.014758	0	0
GP2	2813	broad.mit.edu	37	16	20329707	20329707	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:20329707C>A	ENST00000302555.5	-	7	1202	c.1053G>T	c.(1051-1053)agG>agT	p.R351S	GP2_ENST00000381360.5_Missense_Mutation_p.R207S|GP2_ENST00000341642.5_Missense_Mutation_p.R204S|GP2_ENST00000381362.4_Missense_Mutation_p.R354S			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	354	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGAGGGCCATCCTGACAATGA	0.483000													19	95					5.35047e-06	5.85186e-06	0.018920	1	0
ZNF334	55713	broad.mit.edu	37	20	45130982	45130982	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:45130982C>T	ENST00000457685.2	-	6	2205	c.882G>A	c.(880-882)cgG>cgA	p.R294R	ZNF334_ENST00000347606.4_Silent_p.R332R|ZNF334_ENST00000593880.1_Silent_p.R355R			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGCTGACTTCCGAAAAAAGG	0.433000													13	49					0	0	0.013537	0	0
PWP2	5822	broad.mit.edu	37	21	45537723	45537723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:45537723G>A	ENST00000291576.7	+	8	986	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	287						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAAAGAAGGGGATTTTAACAA	0.493000													26	64					0	0	0.018920	0	0
NOS3	4846	broad.mit.edu	37	7	150697609	150697609	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:150697609G>A	ENST00000297494.3	+	10	1512	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	NOS3_ENST00000467517.1_Silent_p.L385L|NOS3_ENST00000484524.1_Silent_p.L385L|NOS3_ENST00000461406.1_Silent_p.L179L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	385	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCATGGACCTGGATACCCGGA	0.602000													4	28					0	0	0.014758	0	0
DOCK10	55619	broad.mit.edu	37	2	225751242	225751242	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225751242T>C	ENST00000409592.3	-	5	518	c.405A>G	c.(403-405)gaA>gaG	p.E135E	DOCK10_ENST00000258390.7_Silent_p.E141E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	141							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGGTTTGTATTCTGCTCTGA	0.343000													8	18					0	0	0.004482	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601349	46601349	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:46601349G>A	ENST00000398637.5	-	7	1138	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC38A1_ENST00000546893.1_Silent_p.F148F|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Silent_p.F148F|SLC38A1_ENST00000439706.1_Silent_p.F148F|SLC38A1_ENST00000552197.1_Silent_p.F148F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	148					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAAGATTACGAACTTCCCTG	0.413000													12	72					0	0	0.020292	0	0
PHYKPL	85007	broad.mit.edu	37	5	177649486	177649486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:177649486C>T	ENST00000308158.5	-	8	1031	c.797G>A	c.(796-798)gGa>gAa	p.G266E	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		GAAGTCTTTTCCCTGGAGCTG	0.607000													6	52					0	0	0.021553	0	0
SMS	6611	broad.mit.edu	37	X	22002442	22002442	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:22002442C>T	ENST00000404933.2	+	8	1023	c.771C>T	c.(769-771)atC>atT	p.I257I	SMS_ENST00000415881.2_Silent_p.I161I|SMS_ENST00000379404.1_Silent_p.I204I	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	257					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	AAGACTGTATCCCGGTACTGA	0.398000													20	64					0	0	0.016522	0	0
FAM71B	153745	broad.mit.edu	37	5	156589974	156589974	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:156589974C>T	ENST00000302938.4	-	2	1397	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	434						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCTGTCCTTCTTTTCTCTTC	0.502000													35	318					0	0	0.015359	0	0
DPP10	57628	broad.mit.edu	37	2	116257132	116257132	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:116257132G>A	ENST00000410059.1	+	4	798	c.318G>A	c.(316-318)ctG>ctA	p.L106L	DPP10_ENST00000393147.2_Silent_p.L110L|DPP10_ENST00000409163.1_Silent_p.L56L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Silent_p.L99L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	106					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCATTAAACTGAATATAGAAA	0.289000													6	27					0	0	0.001984	0	0
MCHR1	2847	broad.mit.edu	37	22	41077399	41077399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:41077399C>T	ENST00000249016.4	+	2	1432	c.736C>T	c.(736-738)Cct>Tct	p.P246S	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	246					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCATCACCCCTGTGTGGCT	0.617000													12	53					0	0	0.010729	0	0
ABCC12	94160	broad.mit.edu	37	16	48174678	48174678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:48174678G>A	ENST00000311303.3	-	4	922	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	ABCC12_ENST00000416054.1_Missense_Mutation_p.R193W|ABCC12_ENST00000448542.1_Missense_Mutation_p.R193W	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	193	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACCTTCAACCGGATGGCCGTG	0.532000													11	73					0	0	0.008291	0	0
PTPRB	5787	broad.mit.edu	37	12	70988417	70988417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:70988417C>T	ENST00000334414.6	-	6	1390	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.R231Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R448Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R449Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R231Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R231Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R231Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	231	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGCCGGTATCGTTCCACATT	0.473000													6	44					0	0	0.001984	0	0
ALLC	55821	broad.mit.edu	37	2	3726094	3726094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:3726094G>A	ENST00000252505.3	+	4	283	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	60							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGAATATACGGAGTTTGGGAA	0.468000										HNSCC(21;0.051)			6	26					0	0	0.001984	0	0
DEFA4	1669	broad.mit.edu	37	8	6794348	6794348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:6794348C>T	ENST00000297435.2	-	2	198	c.74G>A	c.(73-75)aGa>aAa	p.R25K		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	25					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTCATCACCTCTTGCCTGGAG	0.577000													11	31					0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11572782	11572782	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11572782C>A	ENST00000262442.3	+	17	3092	c.3024C>A	c.(3022-3024)agC>agA	p.S1008R	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1008R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1008	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTATCAGAGCACCTTCAGCC	0.542000													12	53					0.000978159	0.00106165	0.010729	1	0
PEG3	5178	broad.mit.edu	37	19	57327145	57327145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:57327145G>A	ENST00000326441.9	-	10	3028	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R765C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R763C|PEG3_ENST00000423103.2_Missense_Mutation_p.R889C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	889					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGTTGCGATTCTTACTG	0.443000													28	42					0	0	0.027356	0	0
HMGB3	3149	broad.mit.edu	37	X	150154590	150154590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:150154590C>T	ENST00000325307.7	+	3	313	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	HMGB3_ENST00000448905.2_Missense_Mutation_p.R73W	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	73					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTATGATCGGGAAATGAA	0.438000													6	16					0	0	0.021553	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751747	73751747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:73751747G>A	ENST00000342056.2	+	3	976	c.578G>A	c.(577-579)gGa>gAa	p.G193E	KCNQ5_ENST00000403813.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G193E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G193E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G193E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G193E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	193					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGATGGCAAGGAAGACTGAGG	0.438000													23	87					0	0	0.016522	0	0
CRCT1	54544	broad.mit.edu	37	1	152487900	152487900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152487900C>T	ENST00000368790.3	+	2	114	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	14										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGGCTTTTCCAAGGGGTCG	0.687000													5	17					0	0	0.014758	0	0
TRAK1	22906	broad.mit.edu	37	3	42243952	42243952	+	Silent	SNP	G	G	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:42243952G>C	ENST00000327628.5	+	13	1852	c.1452G>C	c.(1450-1452)ccG>ccC	p.P484P	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.P410P|TRAK1_ENST00000341421.3_Silent_p.P426P|TRAK1_ENST00000396175.1_Silent_p.P426P	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	484	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GTAAGAAGCCGGGGACGCCGG	0.642000													4	43					0	0	0.021553	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185375161	185375161	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:185375161G>A	ENST00000382199.2	-	12	1394	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	IGF2BP2_ENST00000346192.3_Silent_p.F390F|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Silent_p.F376F|IGF2BP2_ENST00000457616.2_Silent_p.F439F	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	433	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGGTTGGGATGAAGAGATTCA	0.557000													33	164					0	0	0.013726	0	0
OR8D4	338662	broad.mit.edu	37	11	123777295	123777295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123777295C>T	ENST00000321355.2	+	1	187	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAGGCTGAATCGTCAACTTCA	0.408000													18	88					0	0	0.007413	0	0
TRHR	7201	broad.mit.edu	37	8	110131514	110131514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110131514G>A	ENST00000518632.1	+	3	1378	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	TRHR_ENST00000311762.2_Missense_Mutation_p.E343K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	343						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAAGCCAACAGAGAAACCTGC	0.458000													27	66					0	0	0.024334	0	0
ZNF45	7596	broad.mit.edu	37	19	44418288	44418288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:44418288G>A	ENST00000269973.5	-	10	2390	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	ZNF45_ENST00000589703.1_Missense_Mutation_p.H434Y|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	434					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACTCTAAAATGAATGTTAAAA	0.473000													28	60					0	0	0.010818	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555209	141555209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:141555209G>A	ENST00000442267.2	-	16	2713	c.2639C>T	c.(2638-2640)cCt>cTt	p.P880L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	880						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACATGCCCAAGGAAAGAGAAG	0.507000													3	21					0	0	0.004672	0	0
SNAP47	116841	broad.mit.edu	37	1	227935643	227935643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:227935643C>T	ENST00000366759.4	+	2	755	c.341C>T	c.(340-342)aCc>aTc	p.T114I	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.T114I	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	114						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGCTCCATCACCATCCTGGAG	0.522000													11	63					0	0	0.008291	0	0
SLC6A2	6530	broad.mit.edu	37	16	55703514	55703514	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:55703514C>T	ENST00000379906.2	+	2	567	c.312C>T	c.(310-312)atC>atT	p.I104I	SLC6A2_ENST00000219833.8_Silent_p.I104I|SLC6A2_ENST00000561820.1_Silent_p.I104I|SLC6A2_ENST00000566163.1_Silent_p.I104I|SLC6A2_ENST00000414754.3_Silent_p.I104I|SLC6A2_ENST00000568943.1_Silent_p.I104I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	104					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCTTATCATCGCGGGGATGC	0.572000													4	46					0	0	0.009096	0	0
MUC3A	4584	broad.mit.edu	37	7	100552193	100552193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:100552193C>T	ENST00000319509.7	+	1	944	c.944C>T	c.(943-945)tCc>tTc	p.S315F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTATATTTCCCTTCCCTCC	0.488000													15	214					0	0	0.024245	0	0
FAT3	120114	broad.mit.edu	37	11	92086925	92086925	+	Silent	SNP	C	C	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:92086925C>G	ENST00000298047.6	+	1	1664	c.1647C>G	c.(1645-1647)gcC>gcG	p.A549A	FAT3_ENST00000541502.1_Silent_p.A549A|FAT3_ENST00000525166.1_Silent_p.A399A|FAT3_ENST00000409404.2_Silent_p.A549A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	549	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGTTAGAGCCTCTGACTGGG	0.403000										TCGA Ovarian(4;0.039)			92	308					0	0	0.014410	0	0
AEBP1	165	broad.mit.edu	37	7	44151903	44151903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:44151903C>T	ENST00000223357.3	+	17	2505	c.2200C>T	c.(2200-2202)Ctt>Ttt	p.L734F	AEBP1_ENST00000450684.2_Missense_Mutation_p.L309F	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	734	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGAACGCTACCTTTCGCCAGA	0.612000													7	27					0	0	0.003080	0	0
CP	1356	broad.mit.edu	37	3	148925395	148925395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:148925395C>T	ENST00000264613.6	-	5	1053	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	264	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AAAAGTGTATCCATTCACAGC	0.398000													7	39					0	0	0.006214	0	0
ZNF185	7739	broad.mit.edu	37	X	152085689	152085689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:152085689G>A	ENST00000535861.1	+	4	287	c.239G>A	c.(238-240)aGg>aAg	p.R80K	ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000539731.1_Missense_Mutation_p.R80K|ZNF185_ENST00000449285.2_Missense_Mutation_p.R80K|ZNF185_ENST00000318504.7_Missense_Mutation_p.R80K|ZNF185_ENST00000370268.4_Missense_Mutation_p.R80K	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	80						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGCACAAGGGCTCCCACT	0.597000													18	56					0	0	0.021523	0	0
UNC13D	201294	broad.mit.edu	37	17	73836339	73836339	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:73836339C>A	ENST00000207549.4	-	10	1204	c.825G>T	c.(823-825)caG>caT	p.Q275H	UNC13D_ENST00000412096.2_Missense_Mutation_p.Q275H|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	275	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGGTGGCACTGGCCTCGGT	0.672000									Familial Hemophagocytic Lymphohistiocytosis				10	23					2.17888e-05	2.37392e-05	0.006214	1	0
FSIP2	401024	broad.mit.edu	37	2	186673140	186673140	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:186673140T>A	ENST00000343098.5	+	17	19374	c.19374T>A	c.(19372-19374)gaT>gaA	p.D6458E	FSIP2_ENST00000424728.1_Missense_Mutation_p.D6369E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAGCAAAGATGAAAAAAACT	0.348000													5	22					0	0	0.021553	0	0
TRIM3	10612	broad.mit.edu	37	11	6478024	6478024	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:6478024T>C	ENST00000525074.1	-	6	1326	c.932A>G	c.(931-933)aAt>aGt	p.N311S	TRIM3_ENST00000537602.1_Missense_Mutation_p.N233S|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.N192S|TRIM3_ENST00000359518.3_Missense_Mutation_p.N311S|TRIM3_ENST00000345851.3_Missense_Mutation_p.N311S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	311					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGCCCAGATTGAGCACCGA	0.667000													4	80					0	0	0.009096	0	0
CUL1	8454	broad.mit.edu	37	7	148496393	148496393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:148496393G>A	ENST00000325222.4	+	21	2442	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	CUL1_ENST00000409469.1_Missense_Mutation_p.M721I|CUL1_ENST00000602748.1_Missense_Mutation_p.M721I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	721					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATGAAGATGAGGAAGGTTC	0.453000													7	27					0	0	0.006214	0	0
PRSS45	377047	broad.mit.edu	37	3	46784534	46784534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:46784534C>T	ENST00000442359.2	-	3	321	c.322G>A	c.(322-324)Gag>Aag	p.E108K	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	140	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACCTCAGCCTCCTGCAGCTCT	0.577000													12	39					0	0	0.016723	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701967	96701967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:96701967G>A	ENST00000260682.6	+	3	362	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	117					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTCAGCAATGGAAAGAAATGG	0.522000													9	26					0	0	0.010729	0	0
PRG4	10216	broad.mit.edu	37	1	186276717	186276717	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:186276717G>A	ENST00000445192.2	+	7	1911	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	PRG4_ENST00000367483.4_Silent_p.K581K|PRG4_ENST00000367485.4_Silent_p.K529K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K579K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	622	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACCCCCAAGAAGCTCACGC	0.667000													5	6					0	0	0.014758	0	0
OR5D14	219436	broad.mit.edu	37	11	55563223	55563223	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55563223C>T	ENST00000335605.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTACTTTTTCCTTAGTCACC	0.368000													7	46					0	0	0.001984	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	52					0	0	0.009096	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47121384	47121384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:47121384C>T	ENST00000290341.3	+	11	1590	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A280V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	419	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGTGGGCGCCATCATCGGC	0.597000													16	58					0	0	0.004990	0	0
ITPKB	3707	broad.mit.edu	37	1	226924549	226924549	+	Missense_Mutation	SNP	G	G	A	rs137905849		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:226924549G>A	ENST00000429204.1	-	2	938	c.611C>T	c.(610-612)tCc>tTc	p.S204F	ITPKB_ENST00000366784.1_Missense_Mutation_p.S204F|ITPKB_ENST00000272117.3_Missense_Mutation_p.S204F	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	204							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTCCCCCCAGGACTTTGTCCT	0.647000													19	53					0	0	0.007413	0	0
GPR20	2843	broad.mit.edu	37	8	142367729	142367729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:142367729C>T	ENST00000377741.3	-	2	385	c.295G>A	c.(295-297)Gat>Aat	p.D99N		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	99						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACCAGTAGATCGGTCACCACC	0.647000													6	27					0	0	0.021553	0	0
AKAP12	9590	broad.mit.edu	37	6	151670948	151670948	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:151670948G>A	ENST00000402676.2	+	4	1662	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	AKAP12_ENST00000359755.5_Silent_p.E369E|AKAP12_ENST00000253332.1_Silent_p.E474E|AKAP12_ENST00000354675.6_Silent_p.E376E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	474	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTTCCGGAGAGGACCCTACAC	0.532000													17	38					0	0	0.028581	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000													6	220					0	0	0.001984	0	0
DAB1	1600	broad.mit.edu	37	1	57481077	57481077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:57481077G>A	ENST00000371236.2	-	12	1186	c.923C>T	c.(922-924)cCg>cTg	p.P308L	DAB1_ENST00000371231.1_Missense_Mutation_p.P341L|DAB1_ENST00000371234.4_Missense_Mutation_p.P308L|DAB1_ENST00000420954.2_Missense_Mutation_p.P306L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P222L|DAB1_ENST00000414851.2_Missense_Mutation_p.P290L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	341					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCAGAAGGACGGGAGGACAGC	0.592000													9	20					0	0	0.004482	0	0
RXFP4	339403	broad.mit.edu	37	1	155911936	155911936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:155911936G>A	ENST00000368318.3	+	1	457	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	146						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTGGCCATGGCTGCGGGGCC	0.637000													17	38					0	0	0.028581	0	0
TAF1L	138474	broad.mit.edu	37	9	32633616	32633616	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:32633616T>C	ENST00000242310.4	-	1	2051	c.1962A>G	c.(1960-1962)tcA>tcG	p.S654S	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	654					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)		AAGGTTGGACTGAATGGGGAC	0.498000													7	40					0	0	0.004482	0	0
KIAA1217	56243	broad.mit.edu	37	10	24721967	24721967	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:24721967G>A	ENST00000376454.3	+	4	627	c.597G>A	c.(595-597)agG>agA	p.R199R	KIAA1217_ENST00000430453.2_Silent_p.R120R|KIAA1217_ENST00000458595.1_Silent_p.R199R|KIAA1217_ENST00000376452.3_Silent_p.R199R|KIAA1217_ENST00000376462.1_Silent_p.R119R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	199					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCAGCTCAGGATGCCGAATG	0.493000													5	38					0	0	0.003080	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691861	8691861	+	Nonsense_Mutation	SNP	G	G	A	rs143517337	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:8691861G>A	ENST00000299663.3	-	3	337	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.Q58*|CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.Q58*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	58						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCAGGTAGCTGAAACTTTTTC	0.363000													19	89					0	0	0.012319	0	0
STOML3	161003	broad.mit.edu	37	13	39542552	39542552	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:39542552C>T	ENST00000379631.4	-	6	980	c.636G>A	c.(634-636)cgG>cgA	p.R212R	STOML3_ENST00000423210.1_Silent_p.R203R	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	212						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CTCTCGCTTCCCGGGTGGCCT	0.567000													9	49					0	0	0.006214	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129296	248129296	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248129296C>T	ENST00000366480.3	+	1	762	c.663C>T	c.(661-663)atC>atT	p.I221I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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;0.0152)			GACTTATTATCTTGCTACTAC	0.443000													14	21					0	0	0.016723	0	0
ASCC2	84164	broad.mit.edu	37	22	30209479	30209479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:30209479G>A	ENST00000397771.2	-	9	950	c.773C>T	c.(772-774)gCc>gTc	p.A258V	ASCC2_ENST00000542393.1_Missense_Mutation_p.A182V|ASCC2_ENST00000307790.3_Missense_Mutation_p.A258V|ASCC2_ENST00000478812.1_5'UTR			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATCCAGAAAGGCCCAAAGTGT	0.448000													7	36					0	0	0.004482	0	0
DCC	1630	broad.mit.edu	37	18	50683815	50683815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:50683815C>T	ENST00000442544.2	+	8	1967	c.1351C>T	c.(1351-1353)Cca>Tca	p.P451S	DCC_ENST00000412726.1_Missense_Mutation_p.P299S|DCC_ENST00000581580.1_Missense_Mutation_p.P106S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	451	Fibronectin type-III 1.				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)		CAGCTGGCGCCCACCTGCAGA	0.498000													7	52					0	0	0.001984	0	0
MB21D2	151963	broad.mit.edu	37	3	192517384	192517384	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:192517384G>A	ENST00000392452.2	-	2	587	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	89										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CACCTCCAGAGAGCAACAGGT	0.463000													6	28					0	0	0.001984	0	0
OR1C1	26188	broad.mit.edu	37	1	247921004	247921004	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:247921004C>T	ENST00000408896.2	-	1	978	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAACAGCTCTCTGCTTGCCCT	0.522000													7	27					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448439	25448439	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:25448439G>A	ENST00000424208.1	+	0	2163				SNHG14_ENST00000424333.1_RNA|SNORD115-18_ENST00000363293.1_RNA	NR_003305.1																						ATTCTCAAAAGGATTATGCTG	0.507000													22	86					0	0	0.014323	0	0
KCNK5	8645	broad.mit.edu	37	6	39159415	39159415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:39159415C>T	ENST00000359534.3	-	5	1089	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	251					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGTGGACTTCCACAAACATG	0.587000													11	83					0	0	0.010729	0	0
SCAF8	22828	broad.mit.edu	37	6	155153768	155153768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:155153768C>T	ENST00000367178.3	+	20	3631	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	SCAF8_ENST00000417268.1_Missense_Mutation_p.P1019S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P1085S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1019	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTACCGGTTTCCTCCTATAGA	0.468000													13	38					0	0	0.016723	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028035	170028035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:170028035G>A	ENST00000284637.9	-	11	2802	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	821						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTCAAGACAGGACCCAGGGAG	0.502000													9	62					0	0	0.004482	0	0
GPR98	84059	broad.mit.edu	37	5	90040865	90040865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:90040865C>T	ENST00000405460.2	+	51	10648	c.10552C>T	c.(10552-10554)Cac>Tac	p.H3518Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3518					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGCAGCCCACATACTTCT	0.413000													21	173					0	0	0.016522	0	0
NR3C2	4306	broad.mit.edu	37	4	149002580	149002580	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:149002580G>T	ENST00000355292.3	-	9	3244	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H	NR3C2_ENST00000344721.4_Missense_Mutation_p.P957H|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.P957H|NR3C2_ENST00000512865.1_Missense_Mutation_p.P840H|NR3C2_ENST00000511528.1_Missense_Mutation_p.P961H			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	957	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)	CAGCATTGCGGGGAACTCTAC	0.602000													9	16					1.12685e-05	1.22929e-05	0.004482	1	0
LAMB3	3914	broad.mit.edu	37	1	209805940	209805940	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:209805940G>A	ENST00000391911.1	-	7	1199	c.810C>T	c.(808-810)tcC>tcT	p.S270S	LAMB3_ENST00000367030.3_Silent_p.S270S|LAMB3_ENST00000356082.4_Silent_p.S270S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	270	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCACAGCGGTGGAGGGGCCTG	0.632000													15	52					0	0	0.004990	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276318	15276318	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:15276318G>A	ENST00000263388.2	-	31	5751	c.5676C>T	c.(5674-5676)atC>atT	p.I1892I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1892					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCGGTTTCGGATGAGAATCT	0.587000													4	24					0	0	0.014758	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303974	151303974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:151303974G>A	ENST00000370323.4	-	4	435	c.119C>T	c.(118-120)tCa>tTa	p.S40L	MAGEA10_ENST00000244096.3_Missense_Mutation_p.S40L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	40										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTGGATGATGAAGCATC	0.562000													10	39					0	0	0.006214	0	0
CXCR2	3579	broad.mit.edu	37	2	219000288	219000288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219000288C>T	ENST00000318507.2	+	3	1191	c.764C>T	c.(763-765)gCt>gTt	p.A255V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	255					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTCATCTTTGCTGTCGTCCTC	0.597000													35	111					0	0	0.023175	0	0
MYH4	4622	broad.mit.edu	37	17	10350414	10350414	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:10350414G>A	ENST00000255381.2	-	35	5195	c.5085C>T	c.(5083-5085)tcC>tcT	p.S1695S	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	1695					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						TCCGTTCCAGGGATGCCCTGA	0.517000													9	39					0	0	0.008291	0	0
CUL3	8452	broad.mit.edu	37	2	225367750	225367750	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225367750T>A	ENST00000264414.4	-	10	1755	c.1417A>T	c.(1417-1419)Atg>Ttg	p.M473L	CUL3_ENST00000409777.1_Missense_Mutation_p.M449L|CUL3_ENST00000344951.4_Missense_Mutation_p.M407L|CUL3_ENST00000409096.1_Missense_Mutation_p.M449L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	473					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCCTAAACATTCCTTCCAGT	0.368000													37	130					0	0	0.027894	0	0
ELTD1	64123	broad.mit.edu	37	1	79392696	79392696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:79392696G>A	ENST00000370742.3	-	8	1021	c.958C>T	c.(958-960)Caa>Taa	p.Q320*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	320					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCATAATTTTGAGGTTTCAAT	0.318000													4	30					0	0	0.009096	0	0
DNAH17	8632	broad.mit.edu	37	17	76525710	76525710	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:76525710C>T	ENST00000389840.5	-	22	3475	c.3351G>A	c.(3349-3351)ggG>ggA	p.G1117G	DNAH17_ENST00000585328.1_Silent_p.G1114G					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATCATAGTCCCCCTCCTTGA	0.567000													9	42					0	0	0.008291	0	0
STARD7	56910	broad.mit.edu	37	2	96852638	96852638	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:96852638G>A	ENST00000337288.5	-	8	1326	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	315	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AGCTTCTCCAGGAAATCTGGC	0.443000													11	34					0	0	0.013537	0	0
LY75	4065	broad.mit.edu	37	2	160755202	160755202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:160755202G>A	ENST00000263636.4	-	2	490	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H155Y|LY75_ENST00000553424.1_Missense_Mutation_p.H155Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H155Y|LY75_ENST00000554112.1_Missense_Mutation_p.H155Y	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TACTCACCATGATAAGGCTGG	0.448000													11	55					0	0	0.024245	0	0
ERF	2077	broad.mit.edu	37	19	42753161	42753161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:42753161G>A	ENST00000222329.4	-	4	1260	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	ERF_ENST00000440177.2_Missense_Mutation_p.S293F|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	368	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGAAGAAGAAGAGGATGACGA	0.687000													15	77					0	0	0.028581	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55594880C>T	ENST00000378397.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)			29	126					0	0	0.009535	0	0
AURKC	6795	broad.mit.edu	37	19	57743987	57743987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:57743987G>A	ENST00000302804.7	+	4	560	c.374G>A	c.(373-375)aGg>aAg	p.R125K	AURKC_ENST00000599062.1_Missense_Mutation_p.R122K|AURKC_ENST00000598785.1_Missense_Mutation_p.R91K|AURKC_ENST00000415300.2_Missense_Mutation_p.R106K|AURKC_ENST00000448930.1_Missense_Mutation_p.R91K	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	125	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		TATGCTCCAAGGGGTGAGCTC	0.512000													15	57					0	0	0.024245	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735767	55735767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55735767G>A	ENST00000312345.2	-	1	223	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCAAAAGGGAAAAATTGCT	0.348000													13	32					0	0	0.028581	0	0
DOCK10	55619	broad.mit.edu	37	2	225729274	225729274	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225729274T>A	ENST00000409592.3	-	13	1693	c.1580A>T	c.(1579-1581)aAc>aTc	p.N527I	DOCK10_ENST00000258390.7_Missense_Mutation_p.N533I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	533							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTACCTTGTTGGAGTCTGG	0.393000													5	15					0	0	0.014758	0	0
CIT	11113	broad.mit.edu	37	12	120222828	120222828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:120222828G>A	ENST00000392521.2	-	11	1392	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	CIT_ENST00000261833.7_Missense_Mutation_p.S446F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	446					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTTTCCATGGAGCTAGTCTT	0.507000													13	21					0	0	0.013537	0	0
MKI67	4288	broad.mit.edu	37	10	129903322	129903322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:129903322G>A	ENST00000368654.3	-	13	7157	c.6782C>T	c.(6781-6783)tCa>tTa	p.S2261L	MKI67_ENST00000368653.3_Missense_Mutation_p.S1901L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2261	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCCTACTGATGGTGTTCG	0.488000													32	106					0	0	0.008361	0	0
OR10G7	390265	broad.mit.edu	37	11	123909160	123909160	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123909160G>A	ENST00000330487.5	-	1	557	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCAGTTTCAGGATGGGCGGTG	0.537000													8	162					0	0	0.028581	0	0
KRT82	3888	broad.mit.edu	37	12	52799828	52799828	+	Silent	SNP	G	G	A	rs142775418		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:52799828G>A	ENST00000257974.2	-	1	311	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	78	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTCGGTACCCGAAGCCAGGCA	0.652000													6	26					0	0	0.021553	0	0
HCN1	348980	broad.mit.edu	37	5	45267205	45267205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:45267205C>T	ENST00000303230.4	-	7	1826	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	590						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGATCTAGTCGGTCAATGGC	0.398000													13	37					0	0	0.028581	0	0
ZNF431	170959	broad.mit.edu	37	19	21365844	21365844	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:21365844C>T	ENST00000311048.7	+	5	882	c.738C>T	c.(736-738)acC>acT	p.T246T	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GGTTCTCAACCCTTACTAGAC	0.358000													4	19					0	0	0.009096	0	0
SYNE1	23345	broad.mit.edu	37	6	152674513	152674513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:152674513G>A	ENST00000367255.5	-	69	11739	c.11138C>T	c.(11137-11139)tCc>tTc	p.S3713F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S3698F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3684F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3698F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3713F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3713					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)		GGAACTGAGGGATGATTCTGA	0.378000										HNSCC(10;0.0054)			16	42					0	0	0.006122	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308672	7308672	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:7308672C>T	ENST00000297498.2	-	3	430	c.264G>A	c.(262-264)gtG>gtA	p.V88V	SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000528168.1_Silent_p.V35V|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	88					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CTAAAAAGTCCACACAGATCC	0.443000													10	47					0	0	0.013537	0	0
BATF	10538	broad.mit.edu	37	14	76012890	76012890	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:76012890T>G	ENST00000286639.6	+	3	512	c.254T>G	c.(253-255)gTg>gGg	p.V85G	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	85						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)		TTCACGTCGGTGCTGAACAGC	0.622000													5	12					0	0	0.014758	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:55638912C>T	ENST00000370830.3	-	4	1660	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000													14	64					0	0	0.024245	0	0
OR2W3	343171	broad.mit.edu	37	1	248058987	248058987	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248058987C>T	ENST00000537741.1	+	3	356	c.99C>T	c.(97-99)atC>atT	p.I33I	OR2W3_ENST00000360358.3_Silent_p.I33I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	33					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)			TCATCCTGATCGCGTACCTCC	0.567000													20	66					0	0	0.008871	0	0
AADACL4	343066	broad.mit.edu	37	1	12711285	12711285	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:12711285G>A	ENST00000376221.1	+	2	312	c.312G>A	c.(310-312)ccG>ccA	p.P104P		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	104						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGTTCCAGCCGAAGGCAGCAT	0.532000													19	28					0	0	0.012319	0	0
CLPS	1208	broad.mit.edu	37	6	35762990	35762990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:35762990G>A	ENST00000259938.2	-	3	294	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	91					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GCCCACGATGGTCTTGTCTCC	0.567000													12	32					0	0	0.013537	0	0
GPR158	57512	broad.mit.edu	37	10	25878032	25878032	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:25878032T>C	ENST00000376351.3	+	8	2209	c.1850T>C	c.(1849-1851)gTt>gCt	p.V617A		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	617						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTGTTGCAGTTCACAATGAG	0.413000													5	22					0	0	0.021553	0	0
CD86	942	broad.mit.edu	37	3	121838366	121838366	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:121838366T>G	ENST00000330540.2	+	7	1091	c.975T>G	c.(973-975)agT>agG	p.S325R	CD86_ENST00000493101.1_Missense_Mutation_p.S213R|CD86_ENST00000469710.1_Missense_Mutation_p.S243R|CD86_ENST00000393627.2_Missense_Mutation_p.S319R|CD86_ENST00000264468.5_Missense_Mutation_p.S112R	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	325					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GCGACAAAAGTGATACATGTT	0.343000													11	15					0	0	0.016723	0	0
TRPV5	56302	broad.mit.edu	37	7	142612534	142612534	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:142612534A>G	ENST00000265310.1	-	10	1577	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	410					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGAGGCACCAACCCTGAAGAT	0.517000													17	57					0	0	0.006122	0	0
MED25	81857	broad.mit.edu	37	19	50333462	50333462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:50333462C>T	ENST00000312865.6	+	7	859	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	269	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCCCCGTCCCCCCGCAGTAC	0.652000													3	13					0	0	0.004672	0	0
ZAN	7455	broad.mit.edu	37	7	100350500	100350500	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:100350500G>A	ENST00000542585.1	+	0	2920				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACCCA	0.502000													8	26					0	0	0.003080	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22853802	22853802	+	Silent	SNP	C	C	T	rs149365181		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:22853802C>T	ENST00000283645.4	+	12	1570	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.I480I	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	480					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.I480I(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACGAGTGGATCGTGCACGGGC	0.607000													4	18					0	0	0.009096	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627726	65627726	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:65627726G>A	ENST00000327987.4	-	4	839	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	196	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAAGTCCTGTGATCTGCAGGA	0.572000													16	54					0	0	0.004990	0	0
ATP7B	540	broad.mit.edu	37	13	52534368	52534368	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:52534368G>A	ENST00000242839.4	-	7	2193	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	ATP7B_ENST00000400366.3_Silent_p.H568H|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Silent_p.H679H|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Silent_p.H679H	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	679					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCATGGACTGGTGGGGCTCGT	0.463000									Wilson disease				9	36					0	0	0.004482	0	0
PMEL	6490	broad.mit.edu	37	12	56349608	56349608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:56349608G>A	ENST00000548747.1	-	8	2173	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	PMEL_ENST00000552882.1_Missense_Mutation_p.S504F|PMEL_ENST00000536427.1_Missense_Mutation_p.S462F|PMEL_ENST00000449260.2_Missense_Mutation_p.S504F|PMEL_ENST00000550447.1_Missense_Mutation_p.S133F|PMEL_ENST00000548493.1_Missense_Mutation_p.S504F|PMEL_ENST00000539511.1_Missense_Mutation_p.S418F|PMEL_ENST00000550464.1_Missense_Mutation_p.S418F|PMEL_ENST00000360714.4_Missense_Mutation_p.S504F			P40967	PMEL_HUMAN	premelanosome protein	504					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCTCACCGGACGGCACAGC	0.537000											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	27					0	0	0.006214	0	0
OR4C3	256144	broad.mit.edu	37	11	48347004	48347004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:48347004G>A	ENST00000319856.4	+	1	533	c.512G>A	c.(511-513)gGg>gAg	p.G171E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATGCTTGTAGGGGTGGCTTGG	0.527000													16	55					0	0	0.024245	0	0
DOCK10	55619	broad.mit.edu	37	2	225739407	225739407	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:225739407G>A	ENST00000409592.3	-	9	1088	c.975C>T	c.(973-975)aaC>aaT	p.N325N	DOCK10_ENST00000258390.7_Silent_p.N331N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	331							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTGTAGGTTGTTCTCTGAAG	0.338000													11	76					0	0	0.016723	0	0
ACKR2	1238	broad.mit.edu	37	3	42906654	42906654	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:42906654C>T	ENST00000422265.1	+	3	835	c.660C>T	c.(658-660)ctC>ctT	p.L220L	ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.L220L|ACKR2_ENST00000442925.1_Silent_p.L220L|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TAGGGTTTCTCCTTCCACTCC	0.552000													20	87					0	0	0.010504	0	0
HGD	3081	broad.mit.edu	37	3	120357375	120357375	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:120357375G>A	ENST00000283871.5	-	12	1392	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	311					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATCAGCAATGGCCACTCCAG	0.483000													4	76					0	0	0.009096	0	0
IL17A	3605	broad.mit.edu	37	6	52052502	52052502	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:52052502G>A	ENST00000340057.1	+	2	174	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	43					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACTTCCCCCGGACTGTGATGG	0.502000													29	100					0	0	0.006320	0	0
AC096579.13	0	broad.mit.edu	37	2	89160052	89160052	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:89160052C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							ACCCAAATTTCAGAAGACAAT	0.383000													5	23					0	0	0.014758	0	0
ZNF709	163051	broad.mit.edu	37	19	12576106	12576106	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:12576106G>A	ENST00000397732.3	-	4	801	c.630C>T	c.(628-630)acC>acT	p.T210T	ZNF709_ENST00000428311.1_Silent_p.T210T|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTCCTCGAAAGGTTGTGTGAT	0.408000													15	45					0	0	0.024245	0	0
ZNF254	9534	broad.mit.edu	37	19	24309748	24309748	+	Missense_Mutation	SNP	C	C	T	rs146986501		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:24309748C>T	ENST00000357002.4	+	4	1061	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	ZNF254_ENST00000342944.6_Missense_Mutation_p.H231Y	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	316					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAGAAAATTCATACTAGAAA	0.383000													4	17					0	0	0.009096	0	0
L1CAM	3897	broad.mit.edu	37	X	153136579	153136579	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:153136579C>T	ENST00000370060.1	-	6	645	c.456G>A	c.(454-456)gaG>gaA	p.E152E	L1CAM_ENST00000361699.4_Silent_p.E152E|L1CAM_ENST00000543994.1_Silent_p.E154E|L1CAM_ENST00000370057.3_Silent_p.E152E|L1CAM_ENST00000538883.1_Silent_p.E154E|L1CAM_ENST00000361981.3_Silent_p.E147E|L1CAM_ENST00000370055.1_Silent_p.E147E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	152	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACCACTGACTCCCCTTCCT	0.632000													12	35					0	0	0.013537	0	0
DCTD	1635	broad.mit.edu	37	4	183812630	183812630	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:183812630C>T	ENST00000438320.2	-	6	749	c.458_splice	c.e6-1	p.R153_splice	DCTD_ENST00000510370.1_Splice_Site_p.R153_splice|DCTD_ENST00000357067.3_Splice_Site_p.R164_splice	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	153					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		GTATGAATTTCCTAAAAATAA	0.328000													12	55					0	0	0.010729	0	0
EVX2	344191	broad.mit.edu	37	2	176948384	176948384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:176948384C>T	ENST00000308618.4	-	1	257	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	41						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TGCGAATTTTCCAGGGCCTCG	0.602000													17	39					0	0	0.004990	0	0
VPS13C	54832	broad.mit.edu	37	15	62214711	62214711	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:62214711A>G	ENST00000261517.5	-	54	6933	c.6860T>C	c.(6859-6861)tTa>tCa	p.L2287S	VPS13C_ENST00000395898.3_Missense_Mutation_p.L2244S|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2244S|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2287S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2287					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						GCCACATTCTAAGGTAACTTG	0.383000													14	74					0	0	0.028581	0	0
CCDC147	159686	broad.mit.edu	37	10	106128220	106128220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:106128220C>T	ENST00000369704.3	+	6	966	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	278										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CGAGCAATTTCAGATGAGAAA	0.408000													8	21					0	0	0.003080	0	0
GPR83	10888	broad.mit.edu	37	11	94129668	94129668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:94129668C>T	ENST00000243673.2	-	2	581	c.410G>A	c.(409-411)tGg>tAg	p.W137*	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	137						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCCAAATATCCATGTGCTGTT	0.542000													12	26					0	0	0.016723	0	0
ANK3	288	broad.mit.edu	37	10	61956324	61956324	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:61956324G>A	ENST00000280772.1	-	15	1940	c.1749C>T	c.(1747-1749)ctC>ctT	p.L583L	ANK3_ENST00000373827.2_Silent_p.L577L|ANK3_ENST00000503366.1_Silent_p.L566L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	583					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTAGCAGGAGATTGGCGA	0.418000													11	37					0	0	0.020292	0	0
ZNF813	126017	broad.mit.edu	37	19	53994798	53994798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:53994798C>T	ENST00000396403.4	+	4	1440	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TGGAGAGAAACCCTACAAGTG	0.393000													9	27					0	0	0.006214	0	0
HRH1	3269	broad.mit.edu	37	3	11301561	11301561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:11301561C>T	ENST00000397056.1	+	3	1029	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	HRH1_ENST00000431010.2_Missense_Mutation_p.P280S|HRH1_ENST00000438284.2_Missense_Mutation_p.P280S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	280					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATCCCAAACCCCCAAGGAGAT	0.493000													6	43					0	0	0.003080	0	0
GRIK1	2897	broad.mit.edu	37	21	30961298	30961298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:30961298C>T	ENST00000399914.1	-	10	1906	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	GRIK1_ENST00000389124.2_Missense_Mutation_p.G477E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G479E|GRIK1_ENST00000389125.3_Missense_Mutation_p.G462E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G477E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G479E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G477E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G477E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G462E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	477					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TAGGCAATATCCTTCAAATCT	0.363000													18	55					0	0	0.007413	0	0
GBP7	388646	broad.mit.edu	37	1	89613373	89613373	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:89613373T>C	ENST00000294671.2	-	8	1380	c.1242A>G	c.(1240-1242)tcA>tcG	p.S414S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	414						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCAAGAGCTCTGAAAGCCGCT	0.428000													21	108					0	0	0.010504	0	0
C12orf40	283461	broad.mit.edu	37	12	40078685	40078685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:40078685G>A	ENST00000324616.5	+	10	1457	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	C12orf40_ENST00000405531.3_Missense_Mutation_p.E435K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	435										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TATACCTTCGGAAGAATTGCA	0.368000													5	21					0	0	0.021553	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30164947	30164947	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:30164947C>T	ENST00000436066.3	+	2	667	c.201C>T	c.(199-201)atC>atT	p.I67I	PLEKHF1_ENST00000592810.1_Silent_p.I67I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	67	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ATGGCAGCATCGTGCTCAACA	0.602000													8	42					0	0	0.003080	0	0
GSG1	83445	broad.mit.edu	37	12	13241730	13241730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:13241730C>T	ENST00000396302.3	-	3	637	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	GSG1_ENST00000396310.2_Intron|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.G183R|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000324458.8_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AACCGCTTCCCTCCAAATCGG	0.498000													9	22					0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882871	228882871	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:228882871T>C	ENST00000392056.3	-	7	2745	c.2699A>G	c.(2698-2700)aAc>aGc	p.N900S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N900S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	900						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGACAGGTTGACTTGAAC	0.483000													26	110					0	0	0.021523	0	0
CXCR2	3579	broad.mit.edu	37	2	219000042	219000042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219000042C>T	ENST00000318507.2	+	3	945	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	173					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGGGTCTGTCCTTGCTCCTG	0.522000													6	30					0	0	0.003080	0	0
DDX20	11218	broad.mit.edu	37	1	112309250	112309250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:112309250G>A	ENST00000475700.1	+	3	3386	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	DDX20_ENST00000369702.4_Missense_Mutation_p.R735Q			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	735	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCAGAGCCGGAGAAACCTA	0.478000													6	22					0	0	0.021553	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831317	131831317	+	Silent	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:131831317C>A	ENST00000359827.3	-	28	5969	c.5007G>T	c.(5005-5007)ggG>ggT	p.G1669G	PLXNA4_ENST00000321063.4_Silent_p.G1669G			Q9HCM2	PLXA4_HUMAN	plexin A4	1669						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCATCTTGCTCCCCCGGTCCC	0.572000													7	201					1.12685e-05	1.22929e-05	0.004482	1	0
GPR50	9248	broad.mit.edu	37	X	150345310	150345310	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:150345310C>T	ENST00000218316.3	+	1	186	c.117C>T	c.(115-117)atC>atT	p.I39I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	39					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TTATCACCATCGTTGTAGACC	0.512000													27	103					0	0	0.007291	0	0
INTS1	26173	broad.mit.edu	37	7	1527398	1527398	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:1527398G>A	ENST00000389470.4	-	20	2897	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	INTS1_ENST00000404767.3_Silent_p.P838P			Q8N201	INT1_HUMAN	integrator complex subunit 1	838					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGCGTACTGGGGGTCCAGGC	0.692000													6	13					0	0	0.003080	0	0
PARP15	165631	broad.mit.edu	37	3	122353928	122353928	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:122353928A>T	ENST00000483793.1	+	8	1089	c.1049A>T	c.(1048-1050)gAt>gTt	p.D350V	PARP15_ENST00000493645.1_Missense_Mutation_p.D242V|PARP15_ENST00000464300.2_Missense_Mutation_p.D545V|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.D311V			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	523	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGGCAAATGGATATCAAGAAT	0.403000													5	30					0	0	0.014758	0	0
SLIT2	9353	broad.mit.edu	37	4	20620555	20620555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:20620555G>A	ENST00000504154.1	+	37	4765	c.4513G>A	c.(4513-4515)Gaa>Aaa	p.E1505K	SLIT2_ENST00000503837.1_Missense_Mutation_p.E1501K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1518K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1497K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1505	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATACTCTTTCGAATGCACTGA	0.562000													11	25					0	0	0.010729	0	0
IDUA	3425	broad.mit.edu	37	4	998111	998111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:998111C>T	ENST00000453894.1	+	11	2046	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	IDUA_ENST00000514224.1_Missense_Mutation_p.P499L|IDUA_ENST00000247933.4_Missense_Mutation_p.P631L			P35475	IDUA_HUMAN	iduronidase, alpha-L-	631					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CGACCAGGCCCCTTCTCGGAC	0.647000													4	32					0	0	0.014758	0	0
COLEC12	81035	broad.mit.edu	37	18	346919	346919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:346919G>A	ENST00000400256.3	-	5	910	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	235					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGATTCGCTGGATAGCCTGG	0.507000													6	71					0	0	0.003080	0	0
KCNK5	8645	broad.mit.edu	37	6	39159374	39159374	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:39159374C>T	ENST00000359534.3	-	5	1130	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	264					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAAAGGACTCCTTCCGTCGCC	0.562000													18	104					0	0	0.006122	0	0
ELAC2	60528	broad.mit.edu	37	17	12901793	12901793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:12901793G>A	ENST00000338034.4	-	16	1695	c.1456C>T	c.(1456-1458)Ctt>Ttt	p.L486F	ELAC2_ENST00000395962.2_Missense_Mutation_p.L467F|ELAC2_ENST00000426905.3_Missense_Mutation_p.L446F	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	486					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCTGTTCCAAGGAAGATGATT	0.453000													7	43					0	0	0.001984	0	0
PCDH1	5097	broad.mit.edu	37	5	141243308	141243308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:141243308G>A	ENST00000287008.3	-	3	2735	c.2588C>T	c.(2587-2589)gCc>gTc	p.A863V	PCDH1_ENST00000394536.3_Missense_Mutation_p.A863V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A851V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.A841V|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	863					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CAAGGCCACGGCCACCACACC	0.582000													28	172					0	0	0.009535	0	0
RYR1	6261	broad.mit.edu	37	19	38991599	38991599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:38991599C>T	ENST00000355481.4	+	47	7714	c.7583C>T	c.(7582-7584)cCc>cTc	p.P2528L	RYR1_ENST00000360985.3_Missense_Mutation_p.P2528L|RYR1_ENST00000359596.3_Missense_Mutation_p.P2528L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2528	6 X approximate repeats.				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)	GGGTTCCTGCCCGACATGAGG	0.642000													5	29					0	0	0.021553	0	0
GPR116	221395	broad.mit.edu	37	6	46874426	46874426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:46874426C>T	ENST00000283296.7	-	2	362	c.74G>A	c.(73-75)tGg>tAg	p.W25*	GPR116_ENST00000265417.7_Nonsense_Mutation_p.W25*|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000456426.2_Nonsense_Mutation_p.W25*|GPR116_ENST00000362015.4_Nonsense_Mutation_p.W25*	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	25					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)			CTCGTAATTCCAGTTCAGTGC	0.378000													23	57					0	0	0.027356	0	0
TNXB	7148	broad.mit.edu	37	6	32037989	32037989	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:32037989C>T	ENST00000375244.3	-	14	5394	c.5193G>A	c.(5191-5193)ctG>ctA	p.L1731L	TNXB_ENST00000375247.2_Silent_p.L1731L			P22105	TENX_HUMAN	tenascin XB	1813	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGGCATCCAGAGGGGTGA	0.632000													23	115					0	0	0.018920	0	0
ERC2	26059	broad.mit.edu	37	3	56114943	56114943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:56114943C>T	ENST00000288221.6	-	7	1798	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	515						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTGTGAGGTCCTGTAGCTGT	0.393000													4	23					0	0	0.014758	0	0
FOLH1	2346	broad.mit.edu	37	11	49170281	49170281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:49170281G>A	ENST00000340334.7	-	19	2296	c.1928C>T	c.(1927-1929)cCa>cTa	p.P643L	FOLH1_ENST00000533034.1_Intron|FOLH1_ENST00000256999.2_Missense_Mutation_p.P658L|FOLH1_ENST00000343844.4_Missense_Mutation_p.P350L|FOLH1_ENST00000356696.3_Intron	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	658					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TAATACTATTGGGCTGAGAAA	0.303000													5	19					0	0	0.014758	0	0
KIF3C	3797	broad.mit.edu	37	2	26174711	26174711	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:26174711G>A	ENST00000264712.3	-	5	2532	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Silent_p.F651F	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	651	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGTCCAGGAAAAGCCGGT	0.562000													5	43					0	0	0.014758	0	0
HYDIN	54768	broad.mit.edu	37	16	70954782	70954782	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:70954782C>T	ENST00000393567.2	-	46	7647	c.7497G>A	c.(7495-7497)caG>caA	p.Q2499Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2499										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAAGGGGACCTGGCGCTGGT	0.667000													5	10					0	0	0.014758	0	0
CD33	945	broad.mit.edu	37	19	51742850	51742850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:51742850G>A	ENST00000262262.4	+	7	1023	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	CD33_ENST00000421133.2_Missense_Mutation_p.M207I|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	334					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)	CTGTGGAGATGGATGAGGAGC	0.522000													12	45					0	0	0.013537	0	0
BAGE2	85319	broad.mit.edu	37	21	11039065	11039065	+	RNA	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:11039065A>T	ENST00000470054.1	-	0	1138									B melanoma antigen family, member 2															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)		ATCCAGTAGAAAGTTCAGAAT	0.393000													7	281					0	0	0.003080	0	0
LAX1	54900	broad.mit.edu	37	1	203734697	203734697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:203734697G>A	ENST00000442561.2	+	1	394	c.4G>A	c.(4-6)Gat>Aat	p.D2N	LAX1_ENST00000367217.5_Intron	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	2					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D2N(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGATACAATGGATGGTGTCAC	0.517000													8	25					0	0	0.006214	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821090	26821090	+	Missense_Mutation	SNP	C	C	T	rs45546232		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:26821090C>T	ENST00000444914.3	+	8	1720	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	SLC13A2_ENST00000314669.5_Missense_Mutation_p.P385S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.P314S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.P342S	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	385						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTTCATCATACCCTCCAAGTT	0.602000													5	49					0	0	0.021553	0	0
ADAM29	11086	broad.mit.edu	37	4	175898164	175898164	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:175898164G>A	ENST00000359240.3	+	5	2158	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K	ADAM29_ENST00000404450.4_Silent_p.K496K|ADAM29_ENST00000445694.1_Silent_p.K496K|ADAM29_ENST00000514159.1_Silent_p.K496K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	496	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCTATGAAAAGAGCTGTCATG	0.458000													16	82					0	0	0.028581	0	0
YY1	7528	broad.mit.edu	37	14	100728746	100728746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:100728746C>T	ENST00000262238.4	+	2	1045	c.785C>T	c.(784-786)cCt>cTt	p.P262L		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	262	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AAACTTCCTCCTGGAGGAATA	0.378000													9	53					0	0	0.004482	0	0
PDZD4	57595	broad.mit.edu	37	X	153069974	153069974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:153069974C>T	ENST00000164640.4	-	8	1335	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PDZD4_ENST00000544474.1_Missense_Mutation_p.G273R|PDZD4_ENST00000393758.2_Missense_Mutation_p.G307R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	382						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTGCCTCCGGAGGCCCGG	0.627000													7	35					0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057913	63057913	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:63057913C>T	ENST00000332793.6	+	1	278	c.276C>T	c.(274-276)gtC>gtT	p.V92V	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.V40V|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	92						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCGCTTTGTCCATCCCCAGT	0.493000													15	58					0	0	0.024245	0	0
SGPP2	130367	broad.mit.edu	37	2	223389666	223389666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:223389666C>T	ENST00000321276.7	+	4	648	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	188					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCCACAGTATCCATTTGTGTT	0.458000													7	27					0	0	0.003080	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810674	65810674	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:65810674G>A	ENST00000312006.4	-	3	881	c.600C>T	c.(598-600)ttC>ttT	p.F200F	GAL3ST3_ENST00000527878.1_Silent_p.F200F	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	200					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGTTGTGTGCGAACATGGCGA	0.706000													12	44					0	0	0.016723	0	0
DENND3	22898	broad.mit.edu	37	8	142200413	142200413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:142200413G>A	ENST00000519811.1	+	20	3346	c.3276G>A	c.(3274-3276)atG>atA	p.M1092I	DENND3_ENST00000262585.2_Missense_Mutation_p.M1012I|DENND3_ENST00000424248.1_Missense_Mutation_p.M960I|DENND3_ENST00000523308.1_Missense_Mutation_p.M62I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1012										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACGGCATGGTGCTGGTGT	0.587000													15	48					0	0	0.028581	0	0
LRP1B	53353	broad.mit.edu	37	2	140990796	140990796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:140990796G>A	ENST00000389484.3	-	91	14730	c.13759C>T	c.(13759-13761)Cca>Tca	p.P4587S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4587					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTCTTTGGAAGCAGTTCT	0.323000										TSP Lung(27;0.18)			5	20					0	0	0.021553	0	0
KLHL4	56062	broad.mit.edu	37	X	86921475	86921475	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:86921475G>A	ENST00000373119.4	+	11	2243	c.2097_splice	c.e11-1	p.E700_splice	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	700						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGTGTTTTAGGAAGTTCCTGT	0.303000													8	40					0	0	0.006214	0	0
ADAM18	8749	broad.mit.edu	37	8	39581281	39581281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:39581281G>A	ENST00000265707.5	+	19	2077	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ADAM18_ENST00000379866.1_Missense_Mutation_p.E654K|ADAM18_ENST00000541111.1_Missense_Mutation_p.E92K|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	678					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTTTATACTGAAAAAGGCTA	0.299000													12	42					0	0	0.020292	0	0
YBX1	4904	broad.mit.edu	37	1	43166637	43166637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:43166637C>T	ENST00000321358.7	+	7	1065	c.926C>T	c.(925-927)cCa>cTa	p.P309L		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	309					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGATCCACCAGCTGAGAAT	0.567000													8	19					0	0	0.006214	0	0
OR2A12	346525	broad.mit.edu	37	7	143792314	143792314	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:143792314G>A	ENST00000408949.2	+	1	174	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCTTAACCCTGATGGGAAATG	0.493000													10	42					0	0	0.006214	0	0
ACOT1	641371	broad.mit.edu	37	14	74009759	74009759	+	Silent	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:74009759A>G	ENST00000311148.4	+	3	974	c.666A>G	c.(664-666)aaA>aaG	p.K222K	HEATR4_ENST00000560393.1_Intron|ACOT1_ENST00000557556.1_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_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)		CTCAGGTAAAAGGTCCAGGAG	0.502000													3	38					0	0	0.009096	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896164	89896164	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:89896164A>G	ENST00000534061.1	+	9	1267	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y313C|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	346	NAALADase.				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)				ACAAGGATTTACAATGTAGTT	0.264000													4	70					0	0	0.009096	0	0
FOXO4	4303	broad.mit.edu	37	X	70316611	70316611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:70316611G>A	ENST00000374259.3	+	1	565	c.233G>A	c.(232-234)gGg>gAg	p.G78E	FOXO4_ENST00000466874.1_Intron|FOXO4_ENST00000341558.3_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	78					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GAGCCGGCCGGGGGCCCCCAG	0.662000													3	8					0	0	0.004672	0	0
BUB1	699	broad.mit.edu	37	2	111399362	111399362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:111399362G>A	ENST00000535254.1	-	20	2489	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Missense_Mutation_p.P828S|BUB1_ENST00000409311.1_Missense_Mutation_p.P828S	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	828	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATTCCCAGGGGTTGGCAGGC	0.403000													33	90					0	0	0.019004	0	0
PDCD11	22984	broad.mit.edu	37	10	105185072	105185072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:105185072C>T	ENST00000369797.3	+	20	3189	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1032					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)		AAGAAGCACACCCTCTCCATC	0.522000													14	42					0	0	0.024245	0	0
PAXIP1	22976	broad.mit.edu	37	7	154790397	154790397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:154790397C>T	ENST00000404141.1	-	2	333	c.179G>A	c.(178-180)gGa>gAa	p.G60E	PAXIP1_ENST00000397192.1_Missense_Mutation_p.G60E|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	60	BRCT 1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCGAGCTTCTCCCACCTCTGG	0.413000													3	14					0	0	0.004672	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630427	155630427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:155630427G>A	ENST00000368340.5	-	10	1736	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	YY1AP1_ENST00000404643.1_Missense_Mutation_p.P405L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P394L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P425L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P271L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P563L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P414L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P414L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P471L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P425L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P425L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P394L|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTTGAAGCTGGGCTGGAGAGA	0.557000													26	89					0	0	0.027356	0	0
APBA1	320	broad.mit.edu	37	9	72067068	72067068	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:72067068G>A	ENST00000265381.4	-	9	2160	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	646					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGAGAAGTGGATCAGGTCAT	0.522000													23	68					0	0	0.021523	0	0
ICAM5	7087	broad.mit.edu	37	19	10402719	10402719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:10402719C>T	ENST00000221980.4	+	4	745	c.682C>T	c.(682-684)Ccg>Tcg	p.P228S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	228	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCCCTGTCTCCGGATGCCCC	0.562000													6	35					0	0	0.003080	0	0
MAGI2	9863	broad.mit.edu	37	7	78256458	78256458	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:78256458G>A	ENST00000354212.4	-	3	769	c.516C>T	c.(514-516)ctC>ctT	p.L172L	MAGI2_ENST00000419488.1_Silent_p.L172L|MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000535697.1_Silent_p.L9L|MAGI2_ENST00000522391.1_Silent_p.L172L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	172	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACTTTCTAGGAGAGCACCAC	0.443000													4	22					0	0	0.021553	0	0
THSD7B	80731	broad.mit.edu	37	2	137814542	137814542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:137814542C>T	ENST00000409968.1	+	3	870	c.692C>T	c.(691-693)tCc>tTc	p.S231F	THSD7B_ENST00000543459.1_Missense_Mutation_p.S90F|THSD7B_ENST00000413152.2_Missense_Mutation_p.S200F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S231F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCCCATTTCCTGTCCTCTT	0.458000													27	125					0	0	0.006320	0	0
CHD6	84181	broad.mit.edu	37	20	40086061	40086061	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:40086061G>T	ENST00000373233.3	-	18	2849	c.2672C>A	c.(2671-2673)gCc>gAc	p.A891D	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	891	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGACATCGGGCCTGAGCCTG	0.512000													3	16					0.00909568	0.00983442	0.009096	1	0
TEX33	339669	broad.mit.edu	37	22	37398065	37398065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:37398065G>A	ENST00000405091.2	-	4	553	c.302C>T	c.(301-303)tCc>tTc	p.S101F	TEX33_ENST00000402860.3_Missense_Mutation_p.S16F|TEX33_ENST00000381821.1_Missense_Mutation_p.S101F			O43247	EAN57_HUMAN	testis expressed 33	101																	CTCTCTCGAGGAGGATCGAGA	0.652000													3	10					0	0	0.004672	0	0
C6	729	broad.mit.edu	37	5	41159253	41159253	+	Missense_Mutation	SNP	C	C	T	rs148521858	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:41159253C>T	ENST00000263413.3	-	12	2051	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	C6_ENST00000337836.5_Missense_Mutation_p.R596Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	596	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCCCTCCTCGTTGGGGGGC	0.502000													8	67					0	0	0.008291	0	0
DCTN1	1639	broad.mit.edu	37	2	74598271	74598271	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:74598271G>A	ENST00000361874.3	-	9	995	c.678C>T	c.(676-678)gaC>gaT	p.D226D	DCTN1_ENST00000394003.3_Silent_p.D219D|DCTN1_ENST00000409868.1_Silent_p.D209D|DCTN1_ENST00000407639.2_Silent_p.D92D|DCTN1_ENST00000409240.1_Silent_p.D189D|DCTN1_ENST00000409438.1_Silent_p.D92D|DCTN1_ENST00000409567.3_Silent_p.D206D	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	226					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTCCTCCAGGTCCCGCACCT	0.572000													40	172					0	0	0.009718	0	0
HMCN1	83872	broad.mit.edu	37	1	186158759	186158759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:186158759C>T	ENST00000271588.4	+	107	16886	c.16657C>T	c.(16657-16659)Cgg>Tgg	p.R5553W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5436W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5553					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATTTAATCCGGCTGGTTGC	0.468000													10	34					0	0	0.008291	0	0
PSG7	5676	broad.mit.edu	37	19	43429959	43429959	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:43429959C>T	ENST00000446844.3	-	0	1298				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGGAGCTTTCCTTGCCAGTGG	0.468000													56	42					0	0	0.014410	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491797	4491797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:4491797C>T	ENST00000301284.4	+	6	707	c.643C>T	c.(643-645)Cca>Tca	p.P215S	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.P215S	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		215	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGTCCGGGCGCCACGGAGGGG	0.627000													14	58					0	0	0.024245	0	0
RGS6	9628	broad.mit.edu	37	14	72926360	72926360	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:72926360G>A	ENST00000553530.1	+	6	570	c.363G>A	c.(361-363)tcG>tcA	p.S121S	RGS6_ENST00000556437.1_Silent_p.S121S|RGS6_ENST00000407322.4_Silent_p.S121S|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Silent_p.S121S|RGS6_ENST00000404301.2_Silent_p.S121S|RGS6_ENST00000553525.1_Silent_p.S121S|RGS6_ENST00000343854.6_Silent_p.S121S|RGS6_ENST00000434263.2_Silent_p.S52S|RGS6_ENST00000402788.2_Silent_p.S121S|RGS6_ENST00000406236.4_Silent_p.S121S|RGS6_ENST00000355512.6_Silent_p.S121S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	121					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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCTGGCCTTCGAACTGCTGGG	0.572000													14	38					0	0	0.007413	0	0
EPO	2056	broad.mit.edu	37	7	100320292	100320292	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:100320292G>A	ENST00000252723.2	+	4	433	c.252G>A	c.(250-252)ggG>ggA	p.G84G		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	84					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGTAGGTCGGGCAGCAGGCCG	0.657000													6	19					0	0	0.021553	0	0
COTL1	23406	broad.mit.edu	37	16	84600517	84600517	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:84600517C>T	ENST00000262428.4	-	4	525	c.363G>A	c.(361-363)gaG>gaA	p.E121E	COTL1_ENST00000564057.1_Silent_p.E52E|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	121	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						TGAAATCTTCCTCCAGCTCCT	0.527000													16	69					0	0	0.006122	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747343	62747343	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:62747343A>C	ENST00000377871.3	-	7	1381	c.1115T>G	c.(1114-1116)gTg>gGg	p.V372G	SLC22A6_ENST00000421062.2_Missense_Mutation_p.V372G|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.V372G|SLC22A6_ENST00000458333.2_Missense_Mutation_p.V372G	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	372					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCAAAGATCACCTGGATTAG	0.562000													7	36					0	0	0.001984	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863035	10863035	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:10863035G>A	ENST00000559480.1	+	0	331																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGAGGACACGGCCATGTATTA	0.502000													24	444					0	0	0.018920	0	0
CEP250	11190	broad.mit.edu	37	20	34091909	34091909	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:34091909G>A	ENST00000397527.1	+	30	6432	c.5712G>A	c.(5710-5712)ttG>ttA	p.L1904L	CEP250_ENST00000342580.4_Silent_p.L1848L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1904	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCTCTGTTGGCCCTCCAGC	0.647000													7	15					0	0	0.001984	0	0
OR14I1	401994	broad.mit.edu	37	1	248845249	248845249	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248845249G>A	ENST00000342623.3	-	1	380	c.357C>T	c.(355-357)gaC>gaT	p.D119D		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAACATAGCGGTCATAAGACA	0.502000													10	26					0	0	0.008291	0	0
RIC3	79608	broad.mit.edu	37	11	8161542	8161542	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:8161542A>T	ENST00000343202.4	-	2	388	c.323T>A	c.(322-324)tTt>tAt	p.F108Y	RIC3_ENST00000419822.2_Missense_Mutation_p.F108Y|RIC3_ENST00000539720.1_Missense_Mutation_p.F59Y|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.F108Y|RIC3_ENST00000309737.6_Missense_Mutation_p.F108Y	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	108						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TATATATAAAAAAATCCCAAA	0.363000													9	29					0	0	0.008291	0	0
ZNF423	23090	broad.mit.edu	37	16	49671240	49671240	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:49671240G>T	ENST00000561648.1	-	4	1876	c.1823C>A	c.(1822-1824)tCc>tAc	p.S608Y	ZNF423_ENST00000563137.2_Missense_Mutation_p.S548Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.S491Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.S548Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.S548Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.S491Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.S608Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	608					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCACATCGGACGAGACTGG	0.562000													7	47					3.09899e-07	3.39375e-07	0.004482	1	0
GPR39	2863	broad.mit.edu	37	2	133175151	133175151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:133175151C>T	ENST00000329321.3	+	1	1005	c.536C>T	c.(535-537)cCc>cTc	p.P179L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	179						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGAGTACCCCCTGGTGAAC	0.622000													9	22					0	0	0.006214	0	0
OR2T2	401992	broad.mit.edu	37	1	248616126	248616126	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248616126T>A	ENST00000342927.3	+	1	50	c.28T>A	c.(28-30)Tcc>Acc	p.S10T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCAGAACTCCACTAACTT	0.502000													20	114					0	0	0.027894	0	0
COL4A1	1282	broad.mit.edu	37	13	110814651	110814651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:110814651C>T	ENST00000375820.4	-	48	4509	c.4388G>A	c.(4387-4389)gGg>gAg	p.G1463E	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1463	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATTTTGGTCCCAGAAGGACA	0.532000													34	172					0	0	0.021022	0	0
APOA4	337	broad.mit.edu	37	11	116692323	116692323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:116692323C>T	ENST00000357780.3	-	3	565	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGCAGCTGCTCGGCCTGCGTG	0.687000													22	100					0	0	0.012319	0	0
F11	2160	broad.mit.edu	37	4	187201430	187201430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:187201430G>A	ENST00000264692.4	+	9	1096	c.763G>A	c.(763-765)Gat>Aat	p.D255N	F11_ENST00000403665.2_Missense_Mutation_p.D307N			P03951	FA11_HUMAN	coagulation factor XI	307	Apple 3.		C -> Y (in FA11D; secretion of the mutant protein is impaired).		blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGAAGAACTGGATATTGTTGC	0.488000													22	106					0	0	0.012319	0	0
ITIH5	80760	broad.mit.edu	37	10	7679438	7679438	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:7679438C>T	ENST00000256861.6	-	5	483	c.405G>A	c.(403-405)gaG>gaA	p.E135E	ITIH5_ENST00000397145.2_Silent_p.E135E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.E135E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	135	VIT.				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						CAGTCCCCTTCTCTCTGTCAG	0.547000													14	38					0	0	0.004990	0	0
PDE4D	5144	broad.mit.edu	37	5	58511677	58511677	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:58511677G>A	ENST00000340635.6	-	2	748	c.573C>T	c.(571-573)ttC>ttT	p.F191F	PDE4D_ENST00000360047.5_Silent_p.F55F|PDE4D_ENST00000546160.1_Silent_p.F130F|PDE4D_ENST00000507116.1_Silent_p.F127F|PDE4D_ENST00000502575.1_Silent_p.F127F|PDE4D_ENST00000503258.1_Silent_p.F61F|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000405755.2_Silent_p.F69F|PDE4D_ENST00000502484.2_Silent_p.F130F	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	191					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	ATCGATACAGGAAGGACTCCC	0.527000													5	40					0	0	0.014758	0	0
OR10G4	390264	broad.mit.edu	37	11	123886830	123886830	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123886830C>T	ENST00000320891.4	+	1	549	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACCGCCCATCCTGAAACTGG	0.537000													30	72					0	0	0.023175	0	0
RLBP1	6017	broad.mit.edu	37	15	89753551	89753551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:89753551C>T	ENST00000268125.5	-	9	1358	c.919G>A	c.(919-921)Ggc>Agc	p.G307S		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	307					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCCTGGGGGCCAAAGAGCTGC	0.557000													14	53					0	0	0.008871	0	0
ACADM	34	broad.mit.edu	37	1	76198547	76198547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:76198547C>T	ENST00000370841.4	+	4	663	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	ACADM_ENST00000541113.1_Missense_Mutation_p.P40S|ACADM_ENST00000370834.5_Missense_Mutation_p.P76S|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.P80S	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	76					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						GTATCCAGTCCCCCTAATTAG	0.313000													10	36					0	0	0.008291	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361251	70361251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:70361251G>A	ENST00000305107.6	-	1	375	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S110L|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	110					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTACTTGTGAAAAATATGA	0.323000													4	8					0	0	0.009096	0	0
FST	10468	broad.mit.edu	37	5	52781517	52781517	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:52781517G>A	ENST00000396947.3	+	6	1119	c.951_splice	c.e6-1	p.*318_splice	FST_ENST00000256759.3_Intron	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	0	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTAATTTCAGGAATCTGCCCG	0.358000													12	96					0	0	0.016723	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967412	106967412	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:106967412C>T	ENST00000390622.2	-	0	350																											ATCCCTTCCTCAGCCCTGGAA	0.557000													14	46					0	0	0.016723	0	0
SUCO	51430	broad.mit.edu	37	1	172501872	172501872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:172501872G>A	ENST00000367723.3	+	1	384	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AGAGAAAAACGAATTCTGGAA	0.517000													7	40					0	0	0.003080	0	0
RSAD1	55316	broad.mit.edu	37	17	48559767	48559767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:48559767C>T	ENST00000258955.2	+	4	875	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	264					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGCTGTCCTTCGGGAGGC	0.652000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	36					0	0	0.006214	0	0
C4orf26	152816	broad.mit.edu	37	4	76489650	76489650	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:76489650G>A	ENST00000435974.2	+	3	456	c.438G>A	c.(436-438)gaG>gaA	p.E146E	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGAAAGCTGAGAGGGAAGAGA	0.378000													11	77					0	0	0.013537	0	0
DNAH2	146754	broad.mit.edu	37	17	7660431	7660431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7660431G>A	ENST00000572933.1	+	13	3387	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E643K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	643	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTCTTTGCGGAAATTGACTA	0.552000													34	155					0	0	0.021022	0	0
SLC22A5	6584	broad.mit.edu	37	5	131728290	131728290	+	Missense_Mutation	SNP	C	C	T	rs72552735		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:131728290C>T	ENST00000245407.3	+	8	1654	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.P502L	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	478			P -> L (in CDSP; loss of carnitine transport but stimulated organic cation transport).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTGTCTCCCTACTTCGTT	0.542000													8	18					0	0	0.004482	0	0
TBX21	30009	broad.mit.edu	37	17	45822488	45822488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:45822488C>T	ENST00000177694.1	+	6	1575	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	455					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGGACTCTGCCCATGGAACCC	0.687000													3	20					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141526857	141526857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:141526857C>T	ENST00000389484.3	-	35	6654	c.5683G>A	c.(5683-5685)Gaa>Aaa	p.E1895K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1895					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACTTGGTTCAAGAGGTATT	0.413000										TSP Lung(27;0.18)			7	19					0	0	0.001984	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218091	7218091	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:7218091G>A	ENST00000361972.4	-	17	1935	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	SFMBT2_ENST00000397167.1_Silent_p.I615I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	615					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGTCCGTACGATTTTGACCA	0.453000													9	51					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717912	142717912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:142717912G>A	ENST00000381779.4	-	2	1238	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P338L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P338L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	338	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGTTAGAGGAGGCACCCT	0.458000													19	55					0	0	0.007413	0	0
GLIS1	148979	broad.mit.edu	37	1	53980367	53980367	+	Missense_Mutation	SNP	G	G	C	rs142735388	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:53980367G>C	ENST00000312233.2	-	7	1855	c.1289C>G	c.(1288-1290)cCg>cGg	p.P430R		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	430					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCATCCAGCGGGTGGTGCCT	0.637000													7	44					0	0	0.003080	0	0
FOLH1	2346	broad.mit.edu	37	11	49196459	49196459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:49196459C>T	ENST00000340334.7	-	10	1413	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	FOLH1_ENST00000533034.1_Missense_Mutation_p.G349R|FOLH1_ENST00000256999.2_Missense_Mutation_p.G364R|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Missense_Mutation_p.G56R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G364R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	364	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCCACTGCTCCTCTGAGAGTA	0.373000													4	25					0	0	0.009096	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705057	77705057	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:77705057C>T	ENST00000298351.4	+	10	816	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	224						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACTAATGATCACCTATGTGC	0.463000													10	33					0	0	0.013537	0	0
RMDN2	151393	broad.mit.edu	37	2	38179163	38179163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:38179163C>T	ENST00000407257.1	+	2	952	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.P269S|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Missense_Mutation_p.P269S|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		TCCACAGCATCCCTCTCAAAG	0.388000													8	44					0	0	0.003080	0	0
RIMS1	22999	broad.mit.edu	37	6	73000453	73000453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:73000453G>A	ENST00000521978.1	+	25	3626	c.3626G>A	c.(3625-3627)gGa>gAa	p.G1209E	RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000522291.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1209					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCATTAGGGGAAAACATCCT	0.517000													7	25					0	0	0.003080	0	0
MS4A4A	51338	broad.mit.edu	37	11	60068490	60068490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:60068490C>T	ENST00000355131.3	+	5	513	c.290C>T	c.(289-291)tCc>tTc	p.S97F	MS4A4A_ENST00000395016.3_Missense_Mutation_p.S97F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S116F|MS4A4A_ENST00000337908.4_Missense_Mutation_p.S116F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	116						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ATTTCAGGATCCTTGTCAATT	0.279000													5	17					0	0	0.021553	0	0
ASB17	127247	broad.mit.edu	37	1	76397802	76397802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:76397802C>T	ENST00000284142.6	-	1	314	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	59					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CCATCCAAGTCCACATACCTC	0.393000													23	72					0	0	0.018920	0	0
SYBU	55638	broad.mit.edu	37	8	110587741	110587741	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110587741G>A	ENST00000399066.3	-	6	2104	c.1377C>T	c.(1375-1377)acC>acT	p.T459T	SYBU_ENST00000422135.1_Silent_p.T462T|SYBU_ENST00000533171.1_Silent_p.T462T|SYBU_ENST00000533065.1_Silent_p.T343T|SYBU_ENST00000446070.2_Silent_p.T461T|SYBU_ENST00000533895.1_Silent_p.T461T|SYBU_ENST00000529175.1_Silent_p.T256T|SYBU_ENST00000532779.1_Silent_p.T394T|SYBU_ENST00000529690.1_Silent_p.T332T|SYBU_ENST00000424158.2_Silent_p.T467T|SYBU_ENST00000433638.1_Silent_p.T462T|SYBU_ENST00000528647.1_Silent_p.T461T|SYBU_ENST00000408908.2_Silent_p.T462T|SYBU_ENST00000440310.1_Silent_p.T462T|SYBU_ENST00000419099.1_Silent_p.T461T|SYBU_ENST00000408889.3_Silent_p.T343T|SYBU_ENST00000528331.1_Silent_p.T343T|SYBU_ENST00000276646.9_Silent_p.T462T	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	462						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TAGCCCCAGGGGTGGAATGCA	0.567000													4	40					0	0	0.009096	0	0
CACNA1A	773	broad.mit.edu	37	19	13476158	13476158	+	Missense_Mutation	SNP	G	G	A	rs121908228		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:13476158G>A	ENST00000360228.5	-	5	756	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H253Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	253			H -> Y (in EA2; dbSNP:rs121908228).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGTGGTATGAAATTTTCCC	0.453000													16	64					0	0	0.004990	0	0
ANK3	288	broad.mit.edu	37	10	61833536	61833536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:61833536C>T	ENST00000280772.1	-	37	7294	c.7103G>A	c.(7102-7104)gGa>gAa	p.G2368E	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2368					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTAATATCTCCCCGGGATAA	0.388000													7	37					0	0	0.001984	0	0
HOOK2	29911	broad.mit.edu	37	19	12874531	12874531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:12874531G>A	ENST00000264827.5	-	20	2053	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	HOOK2_ENST00000397668.3_Missense_Mutation_p.S630F	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGTCCTCAGGGAATGGAGTTC	0.602000													10	52					0	0	0.008291	0	0
COL1A2	1278	broad.mit.edu	37	7	94037187	94037187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:94037187G>A	ENST00000297268.6	+	13	1094	c.623G>A	c.(622-624)gGa>gAa	p.G208E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	208					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGAAAATGGAACTCCAGGT	0.338000										HNSCC(75;0.22)			6	24					0	0	0.001984	0	0
TCF20	6942	broad.mit.edu	37	22	42605785	42605785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:42605785G>A	ENST00000359486.3	-	1	5663	c.5527C>T	c.(5527-5529)Cct>Tct	p.P1843S	TCF20_ENST00000335626.4_Missense_Mutation_p.P1843S|TCF20_ENST00000404876.1_Missense_Mutation_p.P144S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTAGTTCAGGGATTTGTAAC	0.517000													29	98					0	0	0.007291	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185252	127185252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:127185252C>T	ENST00000371124.3	-	1	1130	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	312						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGAGCCTTTCCTCCAGCCCA	0.507000													13	71					0	0	0.013537	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798741	55798741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55798741C>T	ENST00000313555.1	+	1	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTGTATTTCCCATGTTTAA	0.348000													8	28					0	0	0.004482	0	0
DCC	1630	broad.mit.edu	37	18	51013311	51013311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:51013311G>A	ENST00000442544.2	+	26	4497	c.3881G>A	c.(3880-3882)gGa>gAa	p.G1294E	DCC_ENST00000581580.1_Missense_Mutation_p.G929E|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1294					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)		CGAGGTTTCGGAGCAGGAAGA	0.468000													12	36					0	0	0.010729	0	0
KCNV1	27012	broad.mit.edu	37	8	110980336	110980336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110980336C>T	ENST00000524391.1	-	4	2516	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	KCNV1_ENST00000297404.1_Missense_Mutation_p.G495E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	495						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GAAATCATCTCCCCCGCTGCT	0.368000													5	18					0	0	0.014758	0	0
THSD7B	80731	broad.mit.edu	37	2	138425405	138425405	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:138425405C>T	ENST00000409968.1	+	27	4891	c.4713C>T	c.(4711-4713)ttC>ttT	p.F1571F	THSD7B_ENST00000413152.2_Silent_p.F1543F|THSD7B_ENST00000272643.3_Silent_p.F1574F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATGATTTTCCTAATATTTA	0.313000													4	5					0	0	0.014758	0	0
TMEM225	338661	broad.mit.edu	37	11	123756020	123756020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123756020G>A	ENST00000375026.2	-	1	329	c.113C>T	c.(112-114)tCa>tTa	p.S38L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	38						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCATCTTCTGAAATCAATTC	0.443000													7	59					0	0	0.001984	0	0
GPX6	257202	broad.mit.edu	37	6	28483506	28483506	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:28483506G>A	ENST00000361902.1	-	1	64	c.15C>T	c.(13-15)ttC>ttT	p.F5F	GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Silent_p.F5F	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	5					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)	AGGAGGCCTGGAACTGCTGGA	0.542000													4	28					0	0	0.014758	0	0
NPAP1	23742	broad.mit.edu	37	15	24922786	24922786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:24922786C>T	ENST00000329468.2	+	1	2246	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATTTTCACATCTTCCCTAAGC	0.483000													7	43					0	0	0.004482	0	0
PCTP	58488	broad.mit.edu	37	17	53851191	53851191	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:53851191T>G	ENST00000576183.1	+	4	489	c.446T>G	c.(445-447)gTg>gGg	p.V149G	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000325214.6_Missense_Mutation_p.V77G|PCTP_ENST00000268896.5_Missense_Mutation_p.V149G|PCTP_ENST00000573500.1_Missense_Mutation_p.V149G			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	149	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			AGGTCTGGGGTGATCCGGGTG	0.597000													4	15					0	0	0.009096	0	0
DNAH2	146754	broad.mit.edu	37	17	7697628	7697628	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7697628C>T	ENST00000572933.1	+	49	9086	c.7626C>T	c.(7624-7626)tcC>tcT	p.S2542S	DNAH2_ENST00000389173.2_Silent_p.S2542S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2542	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCATCTCCCCAAGGCTAC	0.602000													14	40					0	0	0.024245	0	0
WDR31	114987	broad.mit.edu	37	9	116093332	116093332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:116093332G>A	ENST00000374193.4	-	4	427	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	WDR31_ENST00000341761.4_Missense_Mutation_p.H60Y|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Intron	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	61										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTATCCATGTGAGCTGGGCTA	0.438000													9	31					0	0	0.004482	0	0
RLIM	51132	broad.mit.edu	37	X	73812495	73812495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:73812495G>A	ENST00000332687.6	-	4	873	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	RLIM_ENST00000349225.2_Missense_Mutation_p.R219W	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	219					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGTTCTCCGATGGTCTGGG	0.478000													32	83					0	0	0.017118	0	0
GABRE	2564	broad.mit.edu	37	X	151123933	151123933	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:151123933G>A	ENST00000370325.1	-	8	1097	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Silent_p.F348F			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	348					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAGACGAAGCAGATGG	0.488000													11	41					0	0	0.008291	0	0
LIPF	8513	broad.mit.edu	37	10	90427359	90427359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:90427359G>A	ENST00000394375.3	+	4	282	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LIPF_ENST00000238983.4_Missense_Mutation_p.E47K|LIPF_ENST00000355843.2_Missense_Mutation_p.E47K	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	47					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATACCCAAATGAAGAATATGA	0.294000													12	56					0	0	0.024245	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033436	82033436	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:82033436C>T	ENST00000328945.5	-	3	589	c.462G>A	c.(460-462)cgG>cgA	p.R154R	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	154					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTGACTTTGTCCGAGAGTAGT	0.532000													5	49					0	0	0.014758	0	0
SLC4A10	57282	broad.mit.edu	37	2	162761303	162761303	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:162761303C>T	ENST00000375514.5	+	14	1865	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	SLC4A10_ENST00000272716.5_Silent_p.L515L|SLC4A10_ENST00000446997.1_Silent_p.L545L|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Silent_p.L545L|SLC4A10_ENST00000415876.2_Silent_p.L515L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	545					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGAATCTCTCTTTGGAGCAT	0.408000													16	65					0	0	0.028581	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230729	29230729	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29230729G>A	ENST00000441381.1	+	0	79																											GTGATGCAAGGAAAATGAAAA	0.398000													5	15					0	0	0.021553	0	0
SCN11A	11280	broad.mit.edu	37	3	38938508	38938508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:38938508G>A	ENST00000302328.3	-	14	2429	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	SCN11A_ENST00000456224.3_Missense_Mutation_p.S744L|SCN11A_ENST00000444237.2_Missense_Mutation_p.S744L|SCN11A_ENST00000450244.1_Missense_Mutation_p.S744L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	744					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCGTAAACATGAGACTGTCGG	0.483000													10	34					0	0	0.008291	0	0
OR6T1	219874	broad.mit.edu	37	11	123814338	123814338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123814338C>A	ENST00000321252.2	-	1	242	c.208G>T	c.(208-210)Gag>Tag	p.E70*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCAACAGCTCCAGGAAGGAG	0.498000													9	65					0.00621372	0.00672692	0.006214	1	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342588	16342588	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:16342588G>A	ENST00000475953.1	+	0	230				C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA	NR_027667.1																						GGGCAGCGCGGGGCCGAATCC	0.697000													11	50					0	0	0.016723	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38189091	38189091	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:38189091T>A	ENST00000317025.8	-	5	1440	c.923A>T	c.(922-924)tAt>tTt	p.Y308F	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.Y308F|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.Y308F|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.Y308F	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	308	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGGACATGATATTCTCGGGC	0.398000			T	NUP98	AML								9	21					0	0	0.008291	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119211062	119211062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:119211062C>T	ENST00000371402.2	-	2	460	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	91						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E91K(1)		kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						AGGTTTCCTTCCCATAGGTGG	0.607000													11	46					0	0	0.010729	0	0
OR6N2	81442	broad.mit.edu	37	1	158746909	158746909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:158746909C>T	ENST00000339258.1	-	1	516	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGTTGGATTTCATTGTAAGCA	0.473000													10	25					0	0	0.006214	0	0
LCT	3938	broad.mit.edu	37	2	136567447	136567447	+	Missense_Mutation	SNP	C	C	T	rs140434720		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:136567447C>T	ENST00000264162.2	-	8	2480	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	824	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCTGCTGTCGCTGAAGTTG	0.507000													15	72					0	0	0.028581	0	0
PRLR	5618	broad.mit.edu	37	5	35065841	35065841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:35065841G>A	ENST00000382002.5	-	10	1645	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.H306Y|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.H306Y|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	407					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACCAGCATGAAAATAGGGG	0.493000													32	89					0	0	0.017118	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095806	83095806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:83095806G>A	ENST00000307792.3	-	4	915	c.448C>T	c.(448-450)Cat>Tat	p.H150Y	SEMA3E_ENST00000427262.1_Missense_Mutation_p.H90Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	150	Sema.				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)				ACCTCCAAATGATATCCAACT	0.378000													8	14					0	0	0.003080	0	0
TPTE	7179	broad.mit.edu	37	21	10933925	10933925	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:10933925G>A	ENST00000298232.7	-	16	1267	c.900C>T	c.(898-900)ttC>ttT	p.F300F	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.F318F|TPTE_ENST00000342420.5_Silent_p.F280F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	318	Phosphatase tensin-type.				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)		CTTCCTTGGTGAAAACCACCA	0.328000													20	228					0	0	0.014323	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412625	38412625	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:38412625G>A	ENST00000397202.2	+	0	364				EGFLAM_ENST00000336740.6_Missense_Mutation_p.V223I|EGFLAM_ENST00000354891.3_Missense_Mutation_p.V457I|EGFLAM_ENST00000322350.5_Missense_Mutation_p.V457I			Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains							cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGAACTGGGGTTGCCATCAT	0.483000													11	54					0	0	0.013537	0	0
MEGF8	1954	broad.mit.edu	37	19	42839536	42839536	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:42839536C>T	ENST00000334370.4	+	5	1462	c.828_splice	c.e5+1	p.P276_splice	MEGF8_ENST00000251268.6_Splice_Site_p.P276_splice	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	276						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGTCCTGCCCCGGTATGGACC	0.612000													7	45					0	0	0.006214	0	0
ZNF766	90321	broad.mit.edu	37	19	52794264	52794264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:52794264G>A	ENST00000439461.1	+	4	1263	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.G422E|ZNF766_ENST00000593612.1_Missense_Mutation_p.G422E|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATTCACACTGGAGAGAAACCT	0.383000													3	21					0	0	0.004672	0	0
SPNS1	83985	broad.mit.edu	37	16	28992876	28992876	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28992876C>G	ENST00000311008.11	+	6	1126	c.749C>G	c.(748-750)tCa>tGa	p.S250*	SPNS1_ENST00000334536.8_Nonsense_Mutation_p.S250*|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Nonsense_Mutation_p.S177*|SPNS1_ENST00000352260.7_Nonsense_Mutation_p.S228*|SPNS1_ENST00000565975.1_Nonsense_Mutation_p.S295*|SPNS1_ENST00000561868.1_3'UTR	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	250					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GAGCGCCACTCAGATTTGCCA	0.627000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	44					0	0	0.006214	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695555	219695555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219695555C>T	ENST00000439262.2	-	3	163	c.68G>A	c.(67-69)aGa>aAa	p.R23K	PRKAG3_ENST00000392098.3_Missense_Mutation_p.R48K|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R48K	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	48					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.R48I(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACGGATTCTTTCTGAGCT	0.567000													20	61					0	0	0.021523	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256386	24256386	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:24256386G>A	ENST00000538205.1	+	10	1072		c.e10-1		RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Splice_Site	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1						integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCTTTCCACAGATATATAACA	0.413000													5	29					0	0	0.014758	0	0
BCAS3	54828	broad.mit.edu	37	17	59067551	59067551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:59067551C>T	ENST00000589222.1	+	15	1509	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	BCAS3_ENST00000588462.1_Missense_Mutation_p.P481S|BCAS3_ENST00000588874.1_Missense_Mutation_p.P252S|BCAS3_ENST00000408905.3_Missense_Mutation_p.P481S|BCAS3_ENST00000407086.3_Missense_Mutation_p.P481S|BCAS3_ENST00000390652.5_Missense_Mutation_p.P481S|BCAS3_ENST00000585744.1_Missense_Mutation_p.P252S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	481						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCGCTGTAGCCCTGTTCCAGG	0.478000													14	36					0	0	0.020292	0	0
ARID2	196528	broad.mit.edu	37	12	46285682	46285682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:46285682C>T	ENST00000334344.6	+	17	5214	c.5042C>T	c.(5041-5043)tCt>tTt	p.S1681F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S1291F|ARID2_ENST00000422737.1_Missense_Mutation_p.S1532F|ARID2_ENST00000457135.1_Missense_Mutation_p.S289F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1681					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)		CAGCGGTTTTCTTTTATTACC	0.408000			"""N, S, F"""		hepatocellular carcinoma								16	64					0	0	0.007413	0	0
GK	2710	broad.mit.edu	37	X	30738986	30738986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:30738986G>A	ENST00000378943.3	+	17	1536	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	GK_ENST00000427190.1_Missense_Mutation_p.E254K|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.E453K|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.E459K	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	459					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTCAATGCCCGAAACCACTGC	0.527000													6	16					0	0	0.021553	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919200	56919200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:56919200G>A	ENST00000370733.4	+	4	2110	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KIAA1586_ENST00000545356.1_Missense_Mutation_p.E608K	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	635							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGATTTGCTGGAACCTTCCAC	0.308000													4	32					0	0	0.009096	0	0
C1orf74	148304	broad.mit.edu	37	1	209956302	209956302	+	Silent	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:209956302A>G	ENST00000294811.1	-	2	934	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	226										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CTGGGAACAAACTCTCTGGGA	0.498000													20	50					0	0	0.008871	0	0
CBX6	23466	broad.mit.edu	37	22	39262274	39262274	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:39262274C>T	ENST00000407418.3	-	5	1302	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K	CBX6_ENST00000216083.6_Silent_p.K375K			O95503	CBX6_HUMAN	chromobox homolog 6	393					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CAGCAGCCACCTTCTCGAAAT	0.637000													4	21					0	0	0.014758	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388219	46388219	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:46388219G>C	ENST00000302165.3	-	1	1157	c.814C>G	c.(814-816)Ctg>Gtg	p.L272V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AAGAGCTTCAGCTCGAACTCG	0.622000													9	41					0	0	0.004482	0	0
ART3	419	broad.mit.edu	37	4	77003159	77003159	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:77003159C>T	ENST00000355810.4	+	3	371	c.252C>T	c.(250-252)atC>atT	p.I84I	ART3_ENST00000341029.5_Silent_p.I84I|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Silent_p.I84I	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	84					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGACTCAAATCTTTCTCCCTA	0.433000													8	27					0	0	0.004482	0	0
NPAP1	23742	broad.mit.edu	37	15	24921455	24921455	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:24921455G>A	ENST00000329468.2	+	1	915	c.441G>A	c.(439-441)gaG>gaA	p.E147E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCTCCTGGAGGAGACCGAGG	0.607000													6	27					0	0	0.001984	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411557	105411557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:105411557C>T	ENST00000333244.5	-	7	10350	c.10231G>A	c.(10231-10233)Gtg>Atg	p.V3411M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3411						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGATGTCCACCTGGGGGCTC	0.622000													40	160					0	0	0.007835	0	0
NFIA	4774	broad.mit.edu	37	1	61554110	61554110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:61554110C>T	ENST00000403491.3	+	2	801	c.317C>T	c.(316-318)tCc>tTc	p.S106F	NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371184.2_Missense_Mutation_p.S106F|NFIA_ENST00000371185.2_Missense_Mutation_p.S106F|NFIA_ENST00000371189.4_Missense_Mutation_p.S151F|NFIA_ENST00000485903.2_Missense_Mutation_p.S106F|NFIA_ENST00000407417.3_Missense_Mutation_p.S98F|NFIA_ENST00000371187.3_Missense_Mutation_p.S106F|NFIA_ENST00000371191.1_Missense_Mutation_p.S129F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	106					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TGTGTTCTTTCCAACCCAGAC	0.448000													10	57					0	0	0.008291	0	0
ACCSL	390110	broad.mit.edu	37	11	44074611	44074611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:44074611G>A	ENST00000378832.1	+	7	997	c.941G>A	c.(940-942)aGg>aAg	p.R314K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	314							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTTGAAGCTAGGCTTGAGGTA	0.458000													12	39					0	0	0.010729	0	0
FER1L6	654463	broad.mit.edu	37	8	125061950	125061950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:125061950G>A	ENST00000522917.1	+	22	3033	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G943R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	943						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CATCTTTTGTGGGAATCTCTC	0.522000													9	62					0	0	0.006214	0	0
OR1N1	138883	broad.mit.edu	37	9	125289540	125289540	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:125289540G>A	ENST00000304880.2	-	1	32	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTCCTCGGAGGAAAAATTCAG	0.473000													3	12					0	0	0.004672	0	0
PTPRK	5796	broad.mit.edu	37	6	128505719	128505719	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:128505719G>A	ENST00000368227.3	-	7	1386	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	PTPRK_ENST00000532331.1_Silent_p.T340T|PTPRK_ENST00000368210.3_Silent_p.T340T|PTPRK_ENST00000368207.3_Silent_p.T340T|PTPRK_ENST00000368215.3_Silent_p.T340T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Silent_p.T340T|PTPRK_ENST00000368213.5_Silent_p.T340T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	340	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGACTGCATGGGTTTCTGTCC	0.438000													23	88					0	0	0.027356	0	0
NCAPG2	54892	broad.mit.edu	37	7	158448105	158448105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:158448105G>A	ENST00000409339.3	-	20	2544	c.2431C>T	c.(2431-2433)Cgt>Tgt	p.R811C	NCAPG2_ENST00000275830.10_Missense_Mutation_p.R603C|NCAPG2_ENST00000541468.1_Missense_Mutation_p.R312C|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R811C|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R811C|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R811C			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	811					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTGAAGCCACGAGGCTTCCCA	0.577000													27	83					0	0	0.024334	0	0
IGHG3	3502	broad.mit.edu	37	14	106236019	106236019	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:106236019G>A	ENST00000390551.2	-	0	784																											TGGTTTTCTCGATGGGGGCTG	0.612000													43	177					0	0	0.014410	0	0
ZIM3	114026	broad.mit.edu	37	19	57646329	57646329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:57646329C>T	ENST00000269834.1	-	5	1761	c.1376G>A	c.(1375-1377)aGg>aAg	p.R459K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGGTATGACCTGTCAGCGAA	0.418000													14	102					0	0	0.004990	0	0
STK19	8859	broad.mit.edu	37	6	31940487	31940487	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:31940487C>A	ENST00000375331.2	+	3	686	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	STK19_ENST00000375333.2_Missense_Mutation_p.Q174K|STK19_ENST00000463823.1_Intron	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	174						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCTGAGGAGCCAGGTGTACAG	0.662000													27	54					8.58068e-18	9.53161e-18	0.007291	1	0
RANBP2	5903	broad.mit.edu	37	2	109379918	109379918	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:109379918T>C	ENST00000283195.6	+	20	3049	c.2923T>C	c.(2923-2925)Ttg>Ctg	p.L975L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	975					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATCCACCTTTGCCAGAACC	0.408000													13	37					0	0	0.013537	0	0
DNAH8	1769	broad.mit.edu	37	6	38950122	38950122	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:38950122G>A	ENST00000359357.3	+	84	12438	c.12183_splice	c.e84-1	p.E4062_splice	DNAH8_ENST00000441566.1_Splice_Site_p.E4026_splice					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTTTAAGGAGCGACGAAA	0.328000													18	77					0	0	0.016522	0	0
ARIH2	10425	broad.mit.edu	37	3	49005999	49005999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:49005999C>T	ENST00000356401.4	+	7	910	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	ARIH2_ENST00000449376.1_Missense_Mutation_p.R191C|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	191					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CTGTCCACTCCGTACACCAGA	0.507000													20	79					0	0	0.008871	0	0
SHANK2	22941	broad.mit.edu	37	11	70336410	70336410	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:70336410C>A	ENST00000338508.4	-	30	2524	c.2525G>T	c.(2524-2526)cGa>cTa	p.R842L	SHANK2_ENST00000409530.1_Missense_Mutation_p.R252L|SHANK2_ENST00000449833.2_Missense_Mutation_p.R246L|SHANK2_ENST00000449116.2_Missense_Mutation_p.R243L|SHANK2_ENST00000423696.2_Missense_Mutation_p.R462L|SHANK2_ENST00000409161.1_Missense_Mutation_p.R245L|SHANK2_ENST00000357171.3_Missense_Mutation_p.R253L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	462					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATCGTACCTCGAGGGATGCC	0.562000													13	60					9.05144e-12	9.98941e-12	0.016723	1	0
TTC26	79989	broad.mit.edu	37	7	138845778	138845778	+	Missense_Mutation	SNP	G	G	A	rs143828323	by1000genomes	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:138845778G>A	ENST00000474035.2	+	8	882	c.802G>A	c.(802-804)Gat>Aat	p.D268N	TTC26_ENST00000343187.4_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000481482.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	384							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GGTGAATAACGATTTCCCGTC	0.388000													4	19					0	0	0.009096	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853762	51853762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:51853762C>T	ENST00000453097.2	+	8	1100	c.883C>T	c.(883-885)Cct>Tct	p.P295S	SLC4A8_ENST00000535225.2_Missense_Mutation_p.P242S|SLC4A8_ENST00000358657.3_Missense_Mutation_p.P322S|SLC4A8_ENST00000394856.1_Missense_Mutation_p.P242S|SLC4A8_ENST00000514353.3_Missense_Mutation_p.P242S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	295					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAAAAAATTCCTACTGGGGC	0.423000													19	100					0	0	0.008871	0	0
GPR174	84636	broad.mit.edu	37	X	78426611	78426611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:78426611G>A	ENST00000276077.1	+	1	143	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	36						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGTCTCATAGGGAATATATTA	0.373000										HNSCC(63;0.18)			7	11					0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10432309	10432309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:10432309C>T	ENST00000245503.5	-	27	3826	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1148K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1148					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCCAGCTCCCGGGAGAGG	0.617000													19	84					0	0	0.008871	0	0
COL5A1	1289	broad.mit.edu	37	9	137694743	137694743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:137694743G>A	ENST00000371817.3	+	39	3430	c.3016G>A	c.(3016-3018)Gga>Aga	p.G1006R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1006	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTCCCACGGGAGAAACGGG	0.597000													6	12					0	0	0.001984	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:22134223G>A	ENST00000408935.1	+	1	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000													3	18					0	0	0.004672	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:100263983G>A	ENST00000515683.1	-	0	1148					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													44	182					0	0	0.014410	0	0
OR4K1	79544	broad.mit.edu	37	14	20404677	20404677	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20404677C>T	ENST00000285600.4	+	1	911	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTTGAACCCCATCATCTACT	0.423000													4	70					0	0	0.009096	0	0
SCTR	6344	broad.mit.edu	37	2	120236446	120236446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:120236446G>A	ENST00000019103.5	-	3	509	c.242C>T	c.(241-243)cCg>cTg	p.P81L	AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	81					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CATCCGGCCCGGCACAGAAGA	0.617000													7	42					0	0	0.003080	0	0
FGF13	2258	broad.mit.edu	37	X	137717627	137717627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:137717627G>A	ENST00000315930.6	-	4	1253	c.592C>T	c.(592-594)Cca>Tca	p.P198S	FGF13_ENST00000305414.4_Missense_Mutation_p.P145S|FGF13_ENST00000370603.3_Missense_Mutation_p.P208S|FGF13_ENST00000541469.1_Missense_Mutation_p.P152S|FGF13_ENST00000441825.2_Missense_Mutation_p.P179S	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	198					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTTTCAGTGGTTTAGGCAGA	0.393000													21	67					0	0	0.014323	0	0
DNAH17	8632	broad.mit.edu	37	17	76570813	76570813	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:76570813C>T	ENST00000389840.5	-	2	451	c.327G>A	c.(325-327)ctG>ctA	p.L109L	DNAH17_ENST00000585328.1_Silent_p.L109L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACCGCGATCAGCTGGTCCA	0.612000													13	69					0	0	0.013537	0	0
CHAT	1103	broad.mit.edu	37	10	50835666	50835666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:50835666G>A	ENST00000395562.2	+	8	1169	c.700G>A	c.(700-702)Gat>Aat	p.D234N	CHAT_ENST00000455728.2_Missense_Mutation_p.D198N|CHAT_ENST00000351556.3_Missense_Mutation_p.D198N|CHAT_ENST00000337653.2_Missense_Mutation_p.D316N|CHAT_ENST00000395559.2_Missense_Mutation_p.D198N|CHAT_ENST00000339797.1_Missense_Mutation_p.D198N	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	316					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTTTGTCTTGGATGTTGTCAT	0.512000													27	52					0	0	0.010818	0	0
OR5T1	390155	broad.mit.edu	37	11	56043507	56043507	+	Silent	SNP	T	T	C	rs147254260	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:56043507T>C	ENST00000313033.2	+	1	479	c.393T>C	c.(391-393)gcT>gcC	p.A131A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGCAATGGCTTATGATCGCT	0.423000													30	106					0	0	0.008361	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560026	32560026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:32560026C>T	ENST00000345122.3	+	2	466	c.151C>T	c.(151-153)Cca>Tca	p.P51S	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P51S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P51S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P51S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	51					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGAATATTATCCAGAGCATAC	0.388000													10	34					0	0	0.008291	0	0
MROH2B	133558	broad.mit.edu	37	5	41015542	41015542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:41015542C>T	ENST00000399564.4	-	29	3373	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E530K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCAGCCCTTCCTGCAAACCC	0.418000													9	21					0	0	0.006214	0	0
IL17A	3605	broad.mit.edu	37	6	52052501	52052501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:52052501G>A	ENST00000340057.1	+	2	173	c.128G>A	c.(127-129)cGg>cAg	p.R43Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	43					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACTTCCCCCGGACTGTGATG	0.498000													29	102					0	0	0.006320	0	0
ELANE	1991	broad.mit.edu	37	19	852888	852888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:852888C>T	ENST00000590230.1	+	3	221	c.80C>T	c.(79-81)gCc>gTc	p.A27V	ELANE_ENST00000263621.1_Missense_Mutation_p.A27V			P08246	ELNE_HUMAN	elastase, neutrophil expressed	27					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACCGCGCTGGCCTCGGAGATT	0.726000													3	16					0	0	0.009096	0	0
TRHR	7201	broad.mit.edu	37	8	110131324	110131324	+	Nonsense_Mutation	SNP	G	G	A	rs143656279		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110131324G>A	ENST00000518632.1	+	3	1188	c.837G>A	c.(835-837)tgG>tgA	p.W279*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W279*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	279						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.W279*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCTTTTATGGATGCCCTACA	0.388000													58	133					0	0	0.014410	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542123	40542123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:40542123G>A	ENST00000434248.1	-	5	708	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H67Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAAATTTCTGA	0.373000													5	30					0	0	0.014758	0	0
AGXT2	64902	broad.mit.edu	37	5	35035371	35035371	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:35035371C>T	ENST00000231420.6	-	5	737	c.537G>A	c.(535-537)ctG>ctA	p.L179L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	179					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCCTGGCCATCAGCATGGCCA	0.433000													16	122					0	0	0.028581	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128648	150128648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:150128648C>T	ENST00000361875.2	+	1	2527	c.1511C>T	c.(1510-1512)cCc>cTc	p.P504L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P504L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	504							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCCGTGGTGCCCGGAGTTCCA	0.672000													7	21					0	0	0.006214	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516153	140516153	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140516153G>A	ENST00000231134.5	+	1	1354	c.1137G>A	c.(1135-1137)agG>agA	p.R379R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		379	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGGTAGGATGATTTGCT	0.488000													10	43					0	0	0.010729	0	0
ANK3	288	broad.mit.edu	37	10	62039337	62039337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:62039337C>T	ENST00000280772.1	-	2	366	c.175G>A	c.(175-177)Gac>Aac	p.D59N	ANK3_ENST00000373827.2_Missense_Mutation_p.D53N|ANK3_ENST00000503366.1_Missense_Mutation_p.D42N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	59					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTATGTAGTCGAGGGCCTTT	0.343000													25	66					0	0	0.027356	0	0
VPS35	55737	broad.mit.edu	37	16	46715297	46715297	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:46715297G>A	ENST00000299138.7	-	4	373	c.315C>T	c.(313-315)atC>atT	p.I105I		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	105					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACAGCCTTGGGATAATGTTTC	0.363000													6	46					0	0	0.003080	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200398	72200398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:72200398C>T	ENST00000555818.1	+	19	5288	c.4940C>T	c.(4939-4941)tCg>tTg	p.S1647L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1626L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S1101L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1626L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1647					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCTCAGCCTCGGACAGCTCC	0.572000													9	41					0	0	0.006214	0	0
GNAZ	2781	broad.mit.edu	37	22	23438161	23438161	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:23438161C>T	ENST00000248996.4	+	2	945	c.279C>T	c.(277-279)atC>atT	p.I93I	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	93						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCCTCAGGATCGACTTCCACA	0.642000													25	87					0	0	0.024334	0	0
OR2W1	26692	broad.mit.edu	37	6	29012544	29012544	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29012544T>G	ENST00000377175.1	-	1	473	c.409A>C	c.(409-411)Aac>Cac	p.N137H		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGATGTGGGTTCATGACTACA	0.398000													5	30					0	0	0.014758	0	0
OR51B2	79345	broad.mit.edu	37	11	5345070	5345070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:5345070G>A	ENST00000328813.2	-	1	512	c.458C>T	c.(457-459)tCc>tTc	p.S153F	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	153					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)		AGGCAGGATGGATACAAAACC	0.413000													10	33					0	0	0.006214	0	0
F2RL1	2150	broad.mit.edu	37	5	76128859	76128859	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:76128859T>A	ENST00000296677.4	+	2	633	c.427T>A	c.(427-429)Tat>Aat	p.Y143N		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	143					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAACTGGATTTATGGGGAAGC	0.458000													120	429					0	0	0.014410	0	0
DDX27	55661	broad.mit.edu	37	20	47850207	47850207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:47850207C>T	ENST00000371764.4	+	11	1336	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	443						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATCCGGATCCGGCCTAATCG	0.567000													10	73					0	0	0.006214	0	0
CARD11	84433	broad.mit.edu	37	7	2963913	2963913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:2963913C>T	ENST00000396946.4	-	15	2297	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	632					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D625N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTCCAGGTCGTAGGCATCC	0.592000			Mis		DLBCL								6	35					0	0	0.001984	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471280	47471280	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:47471280C>T	ENST00000266581.4	-	2	1972	c.1506G>A	c.(1504-1506)ggG>ggA	p.G502G	AMIGO2_ENST00000321382.3_Silent_p.G502G|AMIGO2_ENST00000550413.1_Silent_p.G502G|AMIGO2_ENST00000429635.1_Silent_p.G502G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	502					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AGTCAGATTTCCCCCTCGTGG	0.463000													6	14					0	0	0.003080	0	0
MIR3654	100500804	broad.mit.edu	37	11	62349026	62349026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:62349026C>T	ENST00000496634.2	-	3	466	c.421G>A	c.(421-423)Gga>Aga	p.G141R	TUT1_ENST00000476907.1_Missense_Mutation_p.G141R|TUT1_ENST00000308436.7_Missense_Mutation_p.G179R																NS(1)	1						GGGGCCGCTCCTTTGGGGGAT	0.627000													9	27					0	0	0.006214	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691146	18691146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:18691146G>A	ENST00000433979.1	+	24	3373	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1086E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1127E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGAGGGTGGGAAAAACCCA	0.398000													12	53					0	0	0.013537	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307998	46307998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:46307998C>T	ENST00000221538.3	-	3	1307	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E125K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E389K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	389	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ccctcctcctcgccgtgcgcc	0.672000													4	10					0	0	0.009096	0	0
KLHL4	56062	broad.mit.edu	37	X	86887243	86887243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:86887243C>T	ENST00000373119.4	+	7	1503	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I	KLHL4_ENST00000373114.4_Missense_Mutation_p.T453I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	453						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GACCTCAGGACCAACAGTTGG	0.388000													5	29					0	0	0.014758	0	0
DNAH9	1770	broad.mit.edu	37	17	11666926	11666926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11666926G>A	ENST00000262442.3	+	36	7233	c.7165G>A	c.(7165-7167)Gat>Aat	p.D2389N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2389N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2389					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATGGTCCAAGATCAGGTAAG	0.463000													5	20					0	0	0.014758	0	0
CUL9	23113	broad.mit.edu	37	6	43155488	43155488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:43155488C>T	ENST00000252050.4	+	7	1703	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	CUL9_ENST00000372647.2_Missense_Mutation_p.S540F|CUL9_ENST00000354495.3_Missense_Mutation_p.S430F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	540					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATCTCTGTGTCCGTGGAAATG	0.507000													39	86					0	0	0.014410	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969392	140969392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:140969392C>T	ENST00000298296.1	+	4	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	240	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGCATTTCCCTGACAGAA	0.473000													19	85					0	0	0.007413	0	0
GABRA1	2554	broad.mit.edu	37	5	161292770	161292770	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:161292770C>T	ENST00000428797.2	+	5	586	c.231C>T	c.(229-231)ttC>ttT	p.F77F	GABRA1_ENST00000393943.4_Silent_p.F77F|GABRA1_ENST00000420560.1_Silent_p.F77F|GABRA1_ENST00000023897.6_Silent_p.F77F|GABRA1_ENST00000437025.2_Silent_p.F77F|GABRA1_ENST00000444819.1_Silent_p.F77F	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	77					gamma-aminobutyric acid signaling pathway|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			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCACCAGTTTCGGACCCGTTT	0.378000													12	96					0	0	0.028581	0	0
MYO3B	140469	broad.mit.edu	37	2	171256809	171256809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:171256809G>A	ENST00000334231.6	+	17	1930	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	MYO3B_ENST00000408978.4_Missense_Mutation_p.E635K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E635K|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	635	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						GCCCAATGCTGAAGCTTTGCA	0.398000													13	67					0	0	0.016723	0	0
SCN11A	11280	broad.mit.edu	37	3	38950535	38950535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:38950535C>T	ENST00000302328.3	-	9	1450	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E418K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E418K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E418K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	418					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AACATCTTTTCCTTGGCCTCT	0.512000													33	91					0	0	0.017118	0	0
CABIN1	23523	broad.mit.edu	37	22	24515511	24515511	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:24515511T>C	ENST00000398319.2	+	28	4863	c.4478T>C	c.(4477-4479)tTc>tCc	p.F1493S	CABIN1_ENST00000263119.5_Missense_Mutation_p.F1493S|CABIN1_ENST00000405822.2_Missense_Mutation_p.F1414S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1493					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAGTGGCCTTCCCCCAGGGG	0.667000													11	34					0	0	0.013537	0	0
KCND3	3752	broad.mit.edu	37	1	112524895	112524895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:112524895C>T	ENST00000369697.1	-	1	523	c.454G>A	c.(454-456)Gac>Aac	p.D152N	KCND3_ENST00000302127.4_Missense_Mutation_p.D152N|KCND3_ENST00000315987.2_Missense_Mutation_p.D152N			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	152						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTCTCCGAGTCGTTGTCGTCC	0.632000													5	16					0	0	0.014758	0	0
ST18	9705	broad.mit.edu	37	8	53073946	53073946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:53073946G>A	ENST00000276480.7	-	14	2266	c.1583C>T	c.(1582-1584)cCa>cTa	p.P528L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	528						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCAGGAAATGGTGGTGTTTT	0.443000													9	46					0	0	0.010729	0	0
NOL8	55035	broad.mit.edu	37	9	95069259	95069259	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:95069259T>G	ENST00000545558.1	-	11	3226	c.2734A>C	c.(2734-2736)Aaa>Caa	p.K912Q	NOL8_ENST00000358855.4_Missense_Mutation_p.K844Q|NOL8_ENST00000542053.1_Missense_Mutation_p.K844Q|NOL8_ENST00000535387.1_Missense_Mutation_p.K874Q|NOL8_ENST00000442668.2_Missense_Mutation_p.K912Q			Q76FK4	NOL8_HUMAN	nucleolar protein 8	912					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCTTTCTTTTTTTCTTCAGCA	0.348000													16	46					0	0	0.024245	0	0
DYRK2	8445	broad.mit.edu	37	12	68052401	68052401	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:68052401T>C	ENST00000344096.3	+	3	2127	c.1714T>C	c.(1714-1716)Tca>Cca	p.S572P	DYRK2_ENST00000393555.3_Missense_Mutation_p.S499P	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	572					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACCTTCTAGCTCAGCTTCCAA	0.483000													30	136					0	0	0.008361	0	0
SCTR	6344	broad.mit.edu	37	2	120236447	120236447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:120236447G>A	ENST00000019103.5	-	3	508	c.241C>T	c.(241-243)Ccg>Tcg	p.P81S	AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	81					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ATCCGGCCCGGCACAGAAGAG	0.617000													8	42					0	0	0.004482	0	0
MEFV	4210	broad.mit.edu	37	16	3304734	3304734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:3304734C>T	ENST00000219596.1	-	2	373	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	112					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCTTGTTCTCCCCCAGGGAG	0.607000													9	36					0	0	0.008291	0	0
WHSC1	7468	broad.mit.edu	37	4	1902596	1902596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:1902596C>T	ENST00000503128.1	+	2	422	c.215C>T	c.(214-216)cCc>cTc	p.P72L	WHSC1_ENST00000382891.5_Missense_Mutation_p.P72L|WHSC1_ENST00000382892.2_Missense_Mutation_p.P72L|WHSC1_ENST00000436793.1_Missense_Mutation_p.P72L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P72L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P72L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P72L|WHSC1_ENST00000382895.3_Missense_Mutation_p.P72L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P72L			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	72					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GACGCCCTGCCCTTTATTCCA	0.552000			T	IGH@	MM								14	45					0	0	0.028581	0	0
LCK	3932	broad.mit.edu	37	1	32742299	32742299	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:32742299G>C	ENST00000333070.4	+	9	976	c.876G>C	c.(874-876)atG>atC	p.M292I	LCK_ENST00000373564.3_Missense_Mutation_p.M299I|LCK_ENST00000336890.5_Missense_Mutation_p.M292I	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	292	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.M299I(1)|p.M292I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CCAACCTCATGAAGCAGCTGC	0.607000			T	TRB@	T-ALL								4	32					0	0	0.021553	0	0
PDZD2	23037	broad.mit.edu	37	5	32101303	32101303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:32101303G>A	ENST00000438447.1	+	24	8699	c.8311G>A	c.(8311-8313)Gtg>Atg	p.V2771M	PDZD2_ENST00000282493.3_Missense_Mutation_p.V2771M|PDZD2_ENST00000513490.1_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2	2771	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAATCATCGGTGACGGGAGA	0.512000													7	26					0	0	0.001984	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475286	50475286	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:50475286G>A	ENST00000602139.1	+	0	1232									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						AATGGAGCACGAAGGAGAGTT	0.677000													11	44					0	0	0.013537	0	0
XIST	7503	broad.mit.edu	37	X	73063933	73063933	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:73063933G>A	ENST00000429829.1	-	0	8655					NR_001564.2																						ACCCACTATTGAAAAGAGGTG	0.433000													18	49					0	0	0.006122	0	0
SNX29	92017	broad.mit.edu	37	16	12136810	12136810	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:12136810T>C	ENST00000566228.1	+	5	373	c.304T>C	c.(304-306)Ttc>Ctc	p.F102L	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCTGCAGCGCTTCTACTCCCT	0.657000													7	27					0	0	0.003080	0	0
TRIM58	25893	broad.mit.edu	37	1	248023996	248023996	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:248023996A>C	ENST00000366481.3	+	2	546	c.498A>C	c.(496-498)aaA>aaC	p.K166N		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	166						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGTGGGGAAAAAGACTGTCA	0.478000													17	54					0	0	0.007413	0	0
USP26	83844	broad.mit.edu	37	X	132159888	132159888	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:132159888G>A	ENST00000511190.1	-	6	2830	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S	USP26_ENST00000370832.1_Silent_p.S787S|USP26_ENST00000406273.1_Silent_p.S787S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	787					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTGCAAGTAGGGAATTCCTGT	0.398000													14	76					0	0	0.028581	0	0
IFNA8	3445	broad.mit.edu	37	9	21409424	21409424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:21409424G>A	ENST00000380205.1	+	1	279	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	83					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TCCATGAGATGATCCAGCAGA	0.478000													22	47					0	0	0.014323	0	0
RNF25	64320	broad.mit.edu	37	2	219528774	219528774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:219528774C>T	ENST00000295704.2	-	10	1726	c.1286G>A	c.(1285-1287)gGt>gAt	p.G429D		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	429					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAGGAAGAACCGGGTGTCCG	0.667000													26	105					0	0	0.024334	0	0
CTNND2	1501	broad.mit.edu	37	5	11346714	11346714	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:11346714G>A	ENST00000304623.8	-	9	1587	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	CTNND2_ENST00000458100.2_Silent_p.S33S|CTNND2_ENST00000359640.2_Silent_p.S466S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.S129S|CTNND2_ENST00000511377.1_Silent_p.S375S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	466					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAAGGGGACGGAGTCGACAC	0.602000													6	20					0	0	0.001984	0	0
SH2B1	25970	broad.mit.edu	37	16	28883932	28883932	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28883932C>T	ENST00000337120.5	+	7	5094	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	SH2B1_ENST00000359285.5_Silent_p.L601L|SH2B1_ENST00000322610.8_Silent_p.L601L|SH2B1_ENST00000395532.4_Silent_p.L601L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Silent_p.L265L|SH2B1_ENST00000545570.1_Silent_p.L291L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	601	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCGATATGCTCGAGCACTTCC	0.612000													12	44					0	0	0.013537	0	0
PAPPA	5069	broad.mit.edu	37	9	119115031	119115031	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:119115031C>T	ENST00000328252.3	+	16	4380	c.4011C>T	c.(4009-4011)ttC>ttT	p.F1337F	PAPPA_ENST00000534838.1_Silent_p.F375F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1337	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGGTCCTTCCCAGAGGCCC	0.602000													11	28					0	0	0.010729	0	0
LST3	0	broad.mit.edu	37	12	21196405	21196405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:21196405G>A	ENST00000381541.3	+	7	930	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E289K|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E242K																							ACCACAGAAAGAAAGGAAAGT	0.323000													5	29					0	0	0.021553	0	0
CLK1	1195	broad.mit.edu	37	2	201721506	201721506	+	Missense_Mutation	SNP	G	G	A	rs146248641		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:201721506G>A	ENST00000434813.2	-	9	1416	c.1082C>T	c.(1081-1083)cCa>cTa	p.P361L	CLK1_ENST00000321356.4_Missense_Mutation_p.P319L|CLK1_ENST00000409769.2_Missense_Mutation_p.P142L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	319	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTAATATCTGGATTTATTAA	0.318000													9	30					0	0	0.004482	0	0
CD209	30835	broad.mit.edu	37	19	7808055	7808055	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:7808055T>A	ENST00000315599.7	-	7	1107	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	CD209_ENST00000394161.5_Missense_Mutation_p.N126I|CD209_ENST00000354397.6_Missense_Mutation_p.N356I|CD209_ENST00000593660.1_Missense_Mutation_p.N292I|CD209_ENST00000602261.1_Missense_Mutation_p.N270I|CD209_ENST00000301357.8_Missense_Mutation_p.N226I|CD209_ENST00000315591.8_Missense_Mutation_p.N338I|CD209_ENST00000394173.4_Missense_Mutation_p.N201I|CD209_ENST00000601951.1_Missense_Mutation_p.N338I|CD209_ENST00000593821.1_Missense_Mutation_p.N226I|CD209_ENST00000204801.8_Missense_Mutation_p.N318I	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	362	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTTCCAGCCATTGCCACTAAA	0.512000													52	161					0	0	0.014410	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882704	144882704	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:144882704G>A	ENST00000369359.4	-	27	3764	c.3726C>T	c.(3724-3726)ctC>ctT	p.L1242L	PDE4DIP_ENST00000530740.1_Silent_p.L1242L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.L1105L|PDE4DIP_ENST00000369356.4_Silent_p.L1105L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1105					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTTCCCTGGAGCTTTCTGA	0.478000			T	PDGFRB	MPD								36	173					0	0	0.025465	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142601967	142601967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:142601967G>A	ENST00000378004.3	+	23	2591	c.2236G>A	c.(2236-2238)Gga>Aga	p.G746R	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.G801R|ARHGAP26_ENST00000486650.1_3'UTR	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	801					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTCTGAACGGAAAGACTGG	0.532000													6	46					0	0	0.003080	0	0
FGD6	55785	broad.mit.edu	37	12	95603337	95603337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:95603337G>A	ENST00000343958.4	-	2	1946	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	FGD6_ENST00000546711.1_Missense_Mutation_p.P575S|FGD6_ENST00000549499.1_Missense_Mutation_p.P575S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	575					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCTGAAAAGGGTAAAATAGGA	0.463000													22	70					0	0	0.016522	0	0
FRMD7	90167	broad.mit.edu	37	X	131228139	131228139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:131228139C>T	ENST00000298542.4	-	5	488	c.313G>A	c.(313-315)Gat>Aat	p.D105N	FRMD7_ENST00000464296.1_Missense_Mutation_p.D90N|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	105	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGAGCCAAATCCTTCTTTATT	0.393000													18	78					0	0	0.004990	0	0
TBC1D2	55357	broad.mit.edu	37	9	100983148	100983148	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:100983148G>A	ENST00000375066.5	-	6	1432	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Silent_p.F447F|TBC1D2_ENST00000342112.5_Silent_p.F229F	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	447						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTGGCTCAGGAAGTCCCTGT	0.642000													11	25					0	0	0.008291	0	0
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:151821286G>A	ENST00000370306.2	+	9	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	481						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.E481K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTACCGAAATCCGCAA	0.547000													6	128					0	0	0.021553	0	0
WIPF1	7456	broad.mit.edu	37	2	175436728	175436728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:175436728G>A	ENST00000392547.2	-	5	904	c.805C>T	c.(805-807)Cct>Tct	p.P269S	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P269S|WIPF1_ENST00000409415.3_Missense_Mutation_p.P269S|WIPF1_ENST00000409891.1_Missense_Mutation_p.P269S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P269S|WIPF1_ENST00000359761.3_Missense_Mutation_p.P269S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	269	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CCCACTGGAGGAGGTGGTGGA	0.662000													4	15					0	0	0.014758	0	0
IFT46	56912	broad.mit.edu	37	11	118428546	118428546	+	Silent	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:118428546A>C	ENST00000264020.2	-	4	482	c.105T>G	c.(103-105)gtT>gtG	p.V35V	IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Silent_p.V35V	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	15	Asp/Glu-rich (highly acidic).				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GGGCAGGTGGAACAGGGTCCA	0.542000													27	111					0	0	0.008361	0	0
PREX2	80243	broad.mit.edu	37	8	68972915	68972915	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:68972915G>A	ENST00000288368.4	+	11	1517	c.1238_splice	c.e11-1	p.E414_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	414	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.E414K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCTTGCAGCGAATTTGTGTC	0.418000													5	28					0	0	0.001984	0	0
CASP10	843	broad.mit.edu	37	2	202074178	202074178	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:202074178C>T	ENST00000286186.6	+	9	1743	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	CASP10_ENST00000346817.5_Silent_p.F393F|CASP10_ENST00000272879.5_Silent_p.F436F|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Silent_p.F369F|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Silent_p.F393F	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	436					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AGGCTGACTTCCTACTTGGTC	0.517000													19	66					0	0	0.012319	0	0
AKR7A3	22977	broad.mit.edu	37	1	19612407	19612407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:19612407C>T	ENST00000361640.4	-	3	1022	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	161					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGATCCAGCCGTTGCTCTT	0.602000													12	22					0	0	0.004990	0	0
PLG	5340	broad.mit.edu	37	6	161152095	161152095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:161152095G>A	ENST00000308192.9	+	11	1332	c.1269G>A	c.(1267-1269)atG>atA	p.M423I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	423	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCCTGACAATGAACTACTGCA	0.483000													11	34					0	0	0.013537	0	0
AC015849.16	0	broad.mit.edu	37	17	34236539	34236539	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:34236539C>T	ENST00000587132.1	-	0	1488																											GGAGAAAGTTCAATTTCTGTA	0.483000													5	17					0	0	0.014758	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339169	11339169	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:11339169C>T	ENST00000334266.1	-	1	374	c.375G>A	c.(373-375)agG>agA	p.R125R		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	125					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTCCGTTCATCCTCCACCTCA	0.383000													4	18					0	0	0.009096	0	0
WDR65	149465	broad.mit.edu	37	1	43652402	43652402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:43652402G>A	ENST00000372492.4	+	6	1318	c.994G>A	c.(994-996)Gat>Aat	p.D332N	WDR65_ENST00000528956.1_Missense_Mutation_p.D332N	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	332										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGAGCAATGATCCAAGTCA	0.488000													13	44					0	0	0.024245	0	0
OR11G2	390439	broad.mit.edu	37	14	20665930	20665930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:20665930G>A	ENST00000357366.3	+	1	436	c.436G>A	c.(436-438)Ggc>Agc	p.G146S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTCTCCTTGGGCTCTACAGA	0.502000													4	33					0	0	0.009096	0	0
BMPER	168667	broad.mit.edu	37	7	34118566	34118566	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:34118566A>T	ENST00000297161.2	+	13	1550	c.1176A>T	c.(1174-1176)aaA>aaT	p.K392N	BMPER_ENST00000426693.1_Missense_Mutation_p.K392N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	392	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTTGACAAAAGACTGCTCCT	0.582000													15	73					0	0	0.028581	0	0
RSF1	51773	broad.mit.edu	37	11	77412910	77412910	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:77412910A>T	ENST00000308488.6	-	6	1666	c.1364T>A	c.(1363-1365)tTt>tAt	p.F455Y	RSF1_ENST00000360355.2_Missense_Mutation_p.F424Y|RSF1_ENST00000480887.1_Missense_Mutation_p.F203Y			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	455					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTGTCTTAAAATTTGGAGC	0.408000													9	41					0	0	0.004482	0	0
CDCA2	157313	broad.mit.edu	37	8	25361032	25361032	+	Silent	SNP	C	C	T	rs76687559	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:25361032C>T	ENST00000330560.3	+	14	2292	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.S590S	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	605					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TGACACCTTCCATTCCGAGCA	0.428000													25	67					0	0	0.010818	0	0
TRAV34	28648	broad.mit.edu	37	14	22675966	22675966	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:22675966C>T	ENST00000390461.2	+	0	290																											CAGCAAAGTTCCCTGCATATC	0.488000													12	40					0	0	0.020292	0	0
NUAK2	81788	broad.mit.edu	37	1	205272979	205272979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:205272979G>A	ENST00000367157.3	-	7	1612	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	496					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGCGATGGAGGAGCAGCCCT	0.617000													15	39					0	0	0.006122	0	0
HPX	3263	broad.mit.edu	37	11	6461515	6461515	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:6461515C>T	ENST00000265983.3	-	4	316	c.214_splice	c.e4-1	p.G72_splice	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	72	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ACACAAACTCCCCTGAAAAAA	0.483000													7	37					0	0	0.004482	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:55539794C>T	ENST00000220676.1	+	4	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1118					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTCCCTTTCATTCTGCAAT	0.423000													4	32					0	0	0.021553	0	0
GFRA3	2676	broad.mit.edu	37	5	137593625	137593625	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:137593625A>C	ENST00000274721.3	-	4	734	c.488T>G	c.(487-489)cTc>cGc	p.L163R	GFRA3_ENST00000378362.3_Missense_Mutation_p.L132R	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	163					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCAAACTTGAGGCAGAGGTC	0.652000													4	17					0	0	0.014758	0	0
KDM3B	51780	broad.mit.edu	37	5	137754723	137754723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:137754723C>T	ENST00000314358.5	+	14	3717	c.3517C>T	c.(3517-3519)Cca>Tca	p.P1173S	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Missense_Mutation_p.P205S|KDM3B_ENST00000394866.1_Missense_Mutation_p.P829S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1173					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGTAACAACTCCAGAGCCGGA	0.488000													4	44					0	0	0.009096	0	0
TLE3	7090	broad.mit.edu	37	15	70348702	70348702	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:70348702G>A	ENST00000558939.1	-	14	2649	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	TLE3_ENST00000440567.3_Silent_p.D414D|TLE3_ENST00000558201.1_Silent_p.D430D|TLE3_ENST00000451782.2_Silent_p.D421D|TLE3_ENST00000559191.1_Silent_p.D5D|TLE3_ENST00000559929.1_Silent_p.D434D|TLE3_ENST00000560589.1_Silent_p.D368D|TLE3_ENST00000557997.1_Silent_p.D416D|TLE3_ENST00000559048.1_Silent_p.D424D|TLE3_ENST00000557907.1_Silent_p.D416D|TLE3_ENST00000560939.1_Silent_p.D426D|TLE3_ENST00000558379.1_Silent_p.D419D|TLE3_ENST00000442299.2_Silent_p.D416D|TLE3_ENST00000317509.8_Silent_p.D412D|TLE3_ENST00000539550.1_Silent_p.D351D			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	424	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGGGTGAGGGTCAAAACCAA	0.607000													21	89					0	0	0.014323	0	0
KCNV1	27012	broad.mit.edu	37	8	110980682	110980682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:110980682G>A	ENST00000524391.1	-	4	2170	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	KCNV1_ENST00000297404.1_Missense_Mutation_p.P380S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	380						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCACAAGGGACACTTGTG	0.478000													11	48					0	0	0.010729	0	0
ABCC12	94160	broad.mit.edu	37	16	48174679	48174679	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:48174679G>A	ENST00000311303.3	-	4	921	c.576C>T	c.(574-576)atC>atT	p.I192I	ABCC12_ENST00000416054.1_Silent_p.I192I|ABCC12_ENST00000448542.1_Silent_p.I192I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	192	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTTCAACCGGATGGCCGTGC	0.532000													11	71					0	0	0.008291	0	0
SOX30	11063	broad.mit.edu	37	5	157065541	157065541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:157065541G>A	ENST00000265007.6	-	4	1918	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.S221F	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	526					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGCTTCAGAATGCAGCTG	0.527000													6	29					0	0	0.021553	0	0
GAP43	2596	broad.mit.edu	37	3	115394989	115394989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:115394989G>A	ENST00000393780.3	+	3	736	c.268G>A	c.(268-270)Gag>Aag	p.E90K	GAP43_ENST00000305124.6_Missense_Mutation_p.E54K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	54					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCTCAAAGGAGAGAAGAAGGA	0.473000													9	25					0	0	0.004482	0	0
COG1	9382	broad.mit.edu	37	17	71202924	71202924	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:71202924T>A	ENST00000299886.4	+	12	2777	c.2697T>A	c.(2695-2697)caT>caA	p.H899Q		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	899					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGAACCCCATAACATCCTGC	0.572000													5	27					0	0	0.014758	0	0
DNAH9	1770	broad.mit.edu	37	17	11696952	11696952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11696952C>T	ENST00000262442.3	+	42	8262	c.8194C>T	c.(8194-8196)Cag>Tag	p.Q2732*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q2732*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2732					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATAAAATCCAGACAGAAGT	0.328000													4	42					0	0	0.014758	0	0
CES3	23491	broad.mit.edu	37	16	67003606	67003606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:67003606G>A	ENST00000303334.4	+	9	1158	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	CES3_ENST00000394037.1_Missense_Mutation_p.E363K|CES3_ENST00000543856.1_Missense_Mutation_p.E2K	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	363						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGATACAATGGAGCAGATGAG	0.627000													4	11					0	0	0.009096	0	0
USP34	9736	broad.mit.edu	37	2	61484347	61484347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:61484347G>A	ENST00000398571.2	-	45	6059	c.5983C>T	c.(5983-5985)Ccc>Tcc	p.P1995S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1995					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCAGTTCGGGAGACATTTCT	0.313000													10	36					0	0	0.008291	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187807	37187807	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:37187807G>A	ENST00000425901.2	+	0	1649					NR_033753.2																						GCACCCTAAAGTGACACTTCC	0.478000													17	66					0	0	0.007413	0	0
DSP	1832	broad.mit.edu	37	6	7571716	7571716	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:7571716G>C	ENST00000379802.3	+	14	2143	c.1802G>C	c.(1801-1803)gGa>gCa	p.G601A	DSP_ENST00000418664.2_Missense_Mutation_p.G601A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	601	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGATGTTTGGAGATGATGAC	0.478000													4	156					0	0	0.014758	0	0
PCLO	27445	broad.mit.edu	37	7	82579080	82579080	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:82579080G>A	ENST00000423517.2	-	6	11161	c.10824C>T	c.(10822-10824)tcC>tcT	p.S3608S	PCLO_ENST00000333891.8_Silent_p.S3608S|PCLO_ENST00000437081.1_Silent_p.S328S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3539					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGTACTGTGGAATCTGCCC	0.493000													13	40					0	0	0.013537	0	0
PPRC1	23082	broad.mit.edu	37	10	103900969	103900969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:103900969C>T	ENST00000278070.2	+	5	2743	c.2704C>T	c.(2704-2706)Ctt>Ttt	p.L902F	PPRC1_ENST00000413464.2_Missense_Mutation_p.L902F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	902	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCTCCTAGTCTTCCATTGTC	0.592000													10	33					0	0	0.008291	0	0
LMX1A	4009	broad.mit.edu	37	1	165218718	165218718	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:165218718C>T	ENST00000342310.3	-	4	805	c.423G>A	c.(421-423)caG>caA	p.Q141Q	LMX1A_ENST00000294816.2_Silent_p.Q141Q|LMX1A_ENST00000367893.4_Silent_p.Q141Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	141	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCAGAGCAGCTGCCCCTCCT	0.607000													17	41					0	0	0.006122	0	0
NEK11	79858	broad.mit.edu	37	3	130947488	130947488	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:130947488A>T	ENST00000383366.4	+	15	1809	c.1516A>T	c.(1516-1518)Atc>Ttc	p.I506F	NEK11_ENST00000429253.2_Missense_Mutation_p.I506F|NEK11_ENST00000510769.1_Missense_Mutation_p.I401F|NEK11_ENST00000510688.1_Missense_Mutation_p.I506F|NEK11_ENST00000508196.1_Missense_Mutation_p.I506F|NEK11_ENST00000412440.2_Missense_Mutation_p.I322F	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	506					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAGAAAGAAATCAGGAATGA	0.448000													6	27					0	0	0.003080	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512954	69512954	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:69512954G>A	ENST00000338206.5	-	6	1470	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	487					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGTGGTACTGGATCCAGGTGA	0.488000													13	60					0	0	0.013537	0	0
TBX18	9096	broad.mit.edu	37	6	85472362	85472362	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:85472362G>A	ENST00000369663.5	-	2	734	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	133					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)		GGCGAGGGCAGAGGGGTCCCG	0.697000													7	26					0	0	0.001984	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907759	164907759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:164907759G>A	ENST00000475390.1	-	2	1303	c.860C>T	c.(859-861)tCt>tTt	p.S287F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S287F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	287						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTACCTCAGAGTCAGACAA	0.473000										HNSCC(40;0.11)			17	62					0	0	0.007413	0	0
RP1L1	94137	broad.mit.edu	37	8	10468325	10468325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:10468325C>T	ENST00000382483.3	-	4	3506	c.3283G>A	c.(3283-3285)Ggc>Agc	p.G1095S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1095					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGCCGGCCCTGCTTGGAG	0.662000													19	50					0	0	0.007413	0	0
TTLL3	26140	broad.mit.edu	37	3	9867622	9867622	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:9867622C>T	ENST00000383827.1	+	2	2509	c.228C>T	c.(226-228)tcC>tcT	p.S76S	TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Silent_p.S76S|TTLL3_ENST00000547186.1_Silent_p.S288S|TTLL3_ENST00000397241.1_Silent_p.S76S|TTLL3_ENST00000426895.4_Silent_p.S431S|TTLL3_ENST00000427853.3_Silent_p.S76S|ARPC4-TTLL3_ENST00000397256.1_Silent_p.S349S|TTLL3_ENST00000455274.1_Silent_p.S76S			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	288					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GAGCCAAGTCCCGCGGACGAG	0.582000													3	18					0	0	0.009096	0	0
PPARG	5468	broad.mit.edu	37	3	12458497	12458497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:12458497G>A	ENST00000397026.2	+	8	1431	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	PPARG_ENST00000397010.2_Missense_Mutation_p.G344S|PPARG_ENST00000287820.6_Missense_Mutation_p.G372S|PPARG_ENST00000309576.6_Missense_Mutation_p.G344S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.G344S|PPARG_ENST00000397015.2_Missense_Mutation_p.G344S|PPARG_ENST00000397000.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	372	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CATATCCGAGGGCCAAGGCTT	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						79	310					0	0	0.014410	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109233	39109233	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:39109233C>T	ENST00000297668.6	-	15	2362	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	CNTNAP3_ENST00000377656.2_Silent_p.Q762Q|CNTNAP3_ENST00000358144.2_Silent_p.Q675Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	763	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATCACAATCTGAGTGACTG	0.463000													3	8					0	0	0.004672	0	0
ZNF514	84874	broad.mit.edu	37	2	95815990	95815990	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:95815990G>A	ENST00000295208.2	-	5	702	c.240C>T	c.(238-240)tcC>tcT	p.S80S	ZNF514_ENST00000411425.1_Silent_p.S80S	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTGATTCCTTGGATTTAGACC	0.353000													37	59					0	0	0.019004	0	0
EML1	2009	broad.mit.edu	37	14	100344868	100344868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:100344868C>T	ENST00000262233.6	+	4	569	c.430C>T	c.(430-432)Cga>Tga	p.R144*	EML1_ENST00000334192.4_Nonsense_Mutation_p.R163*|EML1_ENST00000327921.9_Nonsense_Mutation_p.R132*|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	144						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCTGGGGGTCGAAGGGAAAG	0.483000													13	74					0	0	0.013537	0	0
MCF2L2	23101	broad.mit.edu	37	3	182937681	182937681	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:182937681A>C	ENST00000328913.3	-	21	2630	c.2333T>G	c.(2332-2334)aTg>aGg	p.M778R	MCF2L2_ENST00000473233.1_Missense_Mutation_p.M778R	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	778	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTCTATCTCCATATCTTCAGG	0.363000													5	45					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179641297	179641297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:179641297C>T	ENST00000589042.1	-	28	5518	c.5294G>A	c.(5293-5295)gGc>gAc	p.G1765D	TTN_ENST00000342175.6_Missense_Mutation_p.G1719D|TTN_ENST00000342992.6_Missense_Mutation_p.G1765D|TTN_ENST00000359218.5_Missense_Mutation_p.G1719D|TTN_ENST00000360870.5_Missense_Mutation_p.G1765D|TTN_ENST00000591111.1_Missense_Mutation_p.G1765D|TTN_ENST00000460472.2_Missense_Mutation_p.G1719D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1518	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGCAACGCCATAATCAAG	0.443000													10	25					0	0	0.008291	0	0
SCEL	8796	broad.mit.edu	37	13	78167696	78167696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:78167696G>A	ENST00000535157.1	+	11	844	c.674G>A	c.(673-675)aGa>aAa	p.R225K	SCEL_ENST00000349847.3_Missense_Mutation_p.R247K|SCEL_ENST00000377246.3_Intron	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	247					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCACTTCAGAGAAGTGACAAA	0.373000													8	12					0	0	0.008291	0	0
OR4A16	81327	broad.mit.edu	37	11	55111031	55111031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:55111031G>A	ENST00000314721.2	+	1	405	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GATGGCCTATGATCGCTATGT	0.458000													18	109					0	0	0.008871	0	0
PTGER2	5732	broad.mit.edu	37	14	52781333	52781333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:52781333G>A	ENST00000245457.5	+	1	221	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	23						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TCCCCCAGGCGAAAGCCCAGC	0.667000													3	15					0	0	0.004672	0	0
SYT17	51760	broad.mit.edu	37	16	19278239	19278239	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:19278239C>T	ENST00000562034.1	+	6	4881	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	SYT17_ENST00000568433.1_Silent_p.I116I|SYT17_ENST00000355377.2_Silent_p.I422I|SYT17_ENST00000562711.2_Silent_p.I418I			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	422	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGACTTCATCGGGAGGATCG	0.577000													15	30					0	0	0.007413	0	0
STARD13	90627	broad.mit.edu	37	13	33700224	33700224	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:33700224G>A	ENST00000336934.5	-	7	2192	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	STARD13_ENST00000399365.3_Silent_p.L574L|STARD13_ENST00000255486.4_Silent_p.L684L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	692	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.L692L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTGATCGAGGCAGTTGC	0.552000													11	47					0	0	0.008291	0	0
CRLF3	51379	broad.mit.edu	37	17	29120513	29120513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:29120513G>A	ENST00000324238.6	-	5	905	c.781C>T	c.(781-783)Cct>Tct	p.P261S	CRLF3_ENST00000544695.1_Missense_Mutation_p.P145S|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	261	Fibronectin type-III.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ACACTCCAAGGACTCCACTCC	0.468000													9	46					0	0	0.010729	0	0
CDR1	1038	broad.mit.edu	37	X	139866447	139866447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:139866447C>T	ENST00000370532.2	-	1	276	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	29	23 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)				GGTACGTCTTCCAACAAAGGT	0.443000													40	158					0	0	0.013114	0	0
KLHL13	90293	broad.mit.edu	37	X	117043931	117043931	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:117043931C>T	ENST00000371876.1	-	4	2967	c.546G>A	c.(544-546)ttG>ttA	p.L182L	KLHL13_ENST00000371878.1_Silent_p.L182L|KLHL13_ENST00000539496.1_Silent_p.L236L|KLHL13_ENST00000371882.1_Silent_p.L182L|KLHL13_ENST00000469946.1_Silent_p.L182L|KLHL13_ENST00000541812.1_Silent_p.L217L|KLHL13_ENST00000262820.3_Silent_p.L233L|KLHL13_ENST00000545703.1_Silent_p.L191L|KLHL13_ENST00000540167.1_Silent_p.L217L			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	233					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAGGGAGTTTCAAGAACTCCC	0.458000													23	73					0	0	0.016522	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:19748188G>A	ENST00000400113.3	-	5	1272	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647000													10	54					0	0	0.008291	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279924	53279924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:53279924G>A	ENST00000396435.3	-	5	2034	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	IQSEC2_ENST00000375368.5_Missense_Mutation_p.R602C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R407C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	602	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ACAGAGCCGCGATCTGAGCGG	0.652000													5	13					0	0	0.021553	0	0
TRPS1	7227	broad.mit.edu	37	8	116599243	116599243	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:116599243G>A	ENST00000395715.3	-	5	3262	c.2685C>T	c.(2683-2685)tcC>tcT	p.S895S	TRPS1_ENST00000519674.1_Silent_p.S882S|TRPS1_ENST00000519076.1_Silent_p.S636S|TRPS1_ENST00000520276.1_Silent_p.S886S|TRPS1_ENST00000220888.5_Silent_p.S882S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	882					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGGGACTGGGATTCATCCT	0.498000									Langer-Giedion syndrome				20	62					0	0	0.010504	0	0
PUS1	80324	broad.mit.edu	37	12	132426184	132426184	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:132426184G>T	ENST00000542167.2	+	4	1486	c.733G>T	c.(733-735)Gtc>Ttc	p.V245F	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.V270F|PUS1_ENST00000376649.3_Missense_Mutation_p.V298F|PUS1_ENST00000443358.2_Missense_Mutation_p.V270F			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	298						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGAAGATGGTCGGCCTGGT	0.617000													21	68					3.8784e-16	4.3026e-16	0.012319	1	0
FAM193A	8603	broad.mit.edu	37	4	2702142	2702142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:2702142C>T	ENST00000324666.5	+	17	3721	c.3370C>T	c.(3370-3372)Cct>Tct	p.P1124S	FAM193A_ENST00000502458.1_Missense_Mutation_p.P1146S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P1124S|FAM193A_ENST00000545951.1_Missense_Mutation_p.P1124S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P1124S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1124										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAACCCAACCCCTATGGAGCC	0.473000													6	26					0	0	0.001984	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286633	55286633	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55286633T>C	ENST00000336077.6	+	4	427	c.387T>C	c.(385-387)ccT>ccC	p.P129P	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.P129P|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	129					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATGAGAAACCTTCTCTCTCAG	0.547000													28	79					0	0	0.027894	0	0
CSDE1	7812	broad.mit.edu	37	1	115272906	115272906	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:115272906G>A	ENST00000438362.2	-	12	1845	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	CSDE1_ENST00000358528.4_Silent_p.T443T|CSDE1_ENST00000534699.1_Silent_p.T443T|CSDE1_ENST00000530886.1_Silent_p.T313T|CSDE1_ENST00000339438.6_Silent_p.T412T|CSDE1_ENST00000261443.5_Silent_p.T412T|CSDE1_ENST00000369530.1_Silent_p.T458T	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	443	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGGCTAGTGGTTTTAGGAT	0.378000													4	57					0	0	0.014758	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595633	61595633	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:61595633C>T	ENST00000370349.3	+	9	1062	c.858C>T	c.(856-858)ttC>ttT	p.F286F	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.F292F			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	292					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCAGTCTATTCAGCGGGTTTC	0.622000													6	222					0	0	0.003080	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000													7	41					0	0	0.001984	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	T	rs143101113		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:201354881C>T	ENST00000391967.2	-	4	1380	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	LAD1_ENST00000367313.3_Missense_Mutation_p.R374Q	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	106					0	0	0.009535	0	0
DSP	1832	broad.mit.edu	37	6	7570790	7570790	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:7570790C>T	ENST00000379802.3	+	13	2036	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	DSP_ENST00000418664.2_Silent_p.I565I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	565	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCATGACAATCGCCAAGGTAT	0.557000													15	71					0	0	0.028581	0	0
ZNF594	84622	broad.mit.edu	37	17	5087335	5087335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:5087335G>A	ENST00000399604.4	-	1	357	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	ZNF594_ENST00000575779.1_Missense_Mutation_p.P73S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTTTCTGGGGGATAATATGC	0.448000													8	53					0	0	0.004482	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:69535692C>T	ENST00000338206.5	-	1	654	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000													24	72					0	0	0.014323	0	0
OR4C46	119749	broad.mit.edu	37	11	51515284	51515284	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:51515284G>A	ENST00000328188.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGAAATACATGGAGAATAGGA	0.274000													5	32					0	0	0.001984	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:141673292G>A	ENST00000547270.1	-	1	281	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493000													21	56					0	0	0.008871	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504997	70504997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:70504997C>T	ENST00000457664.2	-	1	361	c.362G>A	c.(361-363)gGa>gAa	p.G121E	UGT2A1_ENST00000514019.1_Missense_Mutation_p.G322E|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					TAGAAGTTTTCCTAGTTCTTT	0.363000													14	56					0	0	0.020292	0	0
NBPF15	284565	broad.mit.edu	37	1	148591246	148591246	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:148591246G>A	ENST00000442702.2	+	17	2378	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	NBPF15_ENST00000369187.3_Silent_p.Q437Q|NBPF15_ENST00000464336.2_3'UTR	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	437	NBPF 4.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AAGTCTTGCAGGACTCACTGG	0.463000													10	53					0	0	0.024245	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637187	124637187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:124637187G>A	ENST00000526629.1	-	3	2322	c.875C>T	c.(874-876)tCc>tTc	p.S292F	MSANTD2_ENST00000374979.3_Missense_Mutation_p.S522F|MSANTD2_ENST00000239614.4_Missense_Mutation_p.S470F			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	522																	GGATTTGGGGGAAACTCCGGG	0.408000													10	53					0	0	0.010729	0	0
XKR3	150165	broad.mit.edu	37	22	17264938	17264938	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:17264938G>A	ENST00000331428.5	-	4	1053	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	317						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGAGAAGTTGATGGCAGCAT	0.443000													5	42					0	0	0.001984	0	0
PCBP4	57060	broad.mit.edu	37	3	51994051	51994051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51994051G>A	ENST00000395014.2	-	2	438	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	PCBP4_ENST00000322099.7_Intron|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000461554.1_Intron|PCBP4_ENST00000355852.2_Intron|PCBP4_ENST00000395013.3_Intron|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000484633.1_Intron			P57723	PCBP4_HUMAN	poly(rC) binding protein 4	128	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCAAACAGAGAACAGGGGCC	0.602000													15	29					0	0	0.024245	0	0
TGM3	7053	broad.mit.edu	37	20	2312688	2312688	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr20:2312688G>A	ENST00000381458.5	+	10	1437	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	458					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGGCTTTGGGGAAACTTAAAC	0.527000													8	35					0	0	0.004482	0	0
TLN2	83660	broad.mit.edu	37	15	63029239	63029239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:63029239C>T	ENST00000561311.1	+	28	3751	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1174V|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1174	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAAGCAGGCCCTGATTGCA	0.552000													4	36					0	0	0.014758	0	0
ITGB8	3696	broad.mit.edu	37	7	20421377	20421377	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:20421377A>T	ENST00000222573.3	+	6	1513	c.829A>T	c.(829-831)Aaa>Taa	p.K277*	ITGB8_ENST00000537992.1_Nonsense_Mutation_p.K142*	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	277	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAAAGAGGCTAAAAGATTGCT	0.403000													15	26					0	0	0.024245	0	0
EYA4	2070	broad.mit.edu	37	6	133703567	133703567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:133703567C>T	ENST00000367895.5	+	3	535	c.71C>T	c.(70-72)tCt>tTt	p.S24F	EYA4_ENST00000355286.6_Missense_Mutation_p.S24F|EYA4_ENST00000430974.2_Missense_Mutation_p.S24F|EYA4_ENST00000525849.1_Missense_Mutation_p.S24F|EYA4_ENST00000452339.2_Missense_Mutation_p.S24F|EYA4_ENST00000531901.1_Missense_Mutation_p.S24F|EYA4_ENST00000355167.3_Missense_Mutation_p.S24F|EYA4_ENST00000431403.2_Missense_Mutation_p.S24F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	24					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTTCACAATCTCAGAATTCC	0.378000													31	93					0	0	0.015359	0	0
FGF13	2258	broad.mit.edu	37	X	137717626	137717626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:137717626G>A	ENST00000315930.6	-	4	1254	c.593C>T	c.(592-594)cCa>cTa	p.P198L	FGF13_ENST00000305414.4_Missense_Mutation_p.P145L|FGF13_ENST00000370603.3_Missense_Mutation_p.P208L|FGF13_ENST00000541469.1_Missense_Mutation_p.P152L|FGF13_ENST00000441825.2_Missense_Mutation_p.P179L	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	198					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTCAGTGGTTTAGGCAG	0.388000													21	65					0	0	0.014323	0	0
DGCR5	26220	broad.mit.edu	37	22	18979491	18979491	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:18979491C>T	ENST00000438934.1	+	0	2842				DGCR5_ENST00000440005.2_RNA																							TGGAACCATTCCCTGGCGTAA	0.582000													5	17					0	0	0.014758	0	0
PPP6C	5537	broad.mit.edu	37	9	127915952	127915952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr9:127915952G>A	ENST00000451402.1	-	7	860	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PPP6C_ENST00000415905.1_Nonsense_Mutation_p.R155*|PPP6C_ENST00000373547.4_Nonsense_Mutation_p.R177*|PPP6C_ENST00000373546.3_Nonsense_Mutation_p.R30*	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	177					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCGATGGTTCGAATTTGATCC	0.408000													5	14					0	0	0.001984	0	0
ISL1	3670	broad.mit.edu	37	5	50680437	50680437	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:50680437A>T	ENST00000230658.7	+	2	676	c.91A>T	c.(91-93)Agg>Tgg	p.R31W	ISL1_ENST00000511384.1_Missense_Mutation_p.R31W	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	31	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTATATTCTGAGGGTTTCTCC	0.408000													11	56					0	0	0.010729	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967416	41967416	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:41967416G>A	ENST00000298919.7	+	10	2443	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	PDZRN4_ENST00000539469.2_Silent_p.E687E|PDZRN4_ENST00000402685.2_Silent_p.E945E			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	945							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCAAAGAGGAGAGAAAGCAGC	0.552000													6	21					0	0	0.003080	0	0
OTUD4	54726	broad.mit.edu	37	4	146062615	146062615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:146062615G>A	ENST00000454497.2	-	19	1941	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.P667S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	666							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GGAAACCCAGGATAGAGTGGG	0.478000													13	45					0	0	0.016723	0	0
C1orf106	55765	broad.mit.edu	37	1	200869256	200869256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:200869256G>A	ENST00000367342.4	+	4	660	c.460G>A	c.(460-462)Gag>Aag	p.E154K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E69K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	154										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTGCCAGCGGAGTATCCCCT	0.622000													4	15					0	0	0.009096	0	0
PNPLA5	150379	broad.mit.edu	37	22	44287012	44287012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:44287012G>A	ENST00000216177.4	-	2	488	c.356C>T	c.(355-357)tCg>tTg	p.S119L	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000597664.1_Missense_Mutation_p.S119L	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	119	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCGGGTCAGCGAAATGCCCAG	0.687000													11	25					0	0	0.020292	0	0
FAT4	79633	broad.mit.edu	37	4	126370209	126370209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:126370209G>A	ENST00000394329.3	+	9	8051	c.8038G>A	c.(8038-8040)Gaa>Aaa	p.E2680K	FAT4_ENST00000335110.5_Missense_Mutation_p.E978K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2680	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAATATTGGAAAACCTTTC	0.373000													8	73					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152841601	152841601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:152841601C>T	ENST00000367255.5	-	6	903	c.302G>A	c.(301-303)gGa>gAa	p.G101E	SYNE1_ENST00000466159.2_Missense_Mutation_p.G101E|SYNE1_ENST00000367248.3_Missense_Mutation_p.G101E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G101E|SYNE1_ENST00000367253.4_Missense_Mutation_p.G101E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G101E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G101E|SYNE1_ENST00000413186.2_Missense_Mutation_p.G101E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G101E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	101	Actin-binding.|CH 1.				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)		TACCTTTCTTCCTTCGAGGAA	0.453000										HNSCC(10;0.0054)			26	76					0	0	0.012213	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140935	143140935	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:143140935C>T	ENST00000332690.1	+	1	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	130					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACCCTGTCTTCTTCTGGCTAA	0.493000													33	93					0	0	0.025465	0	0
CBS	875	broad.mit.edu	37	21	44492159	44492159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr21:44492159G>A	ENST00000398165.3	-	3	404	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	CBS_ENST00000398158.1_Missense_Mutation_p.P49S|CBS_ENST00000398168.1_Missense_Mutation_p.P49S|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000359624.3_Missense_Mutation_p.P49S|CBS_ENST00000352178.5_Missense_Mutation_p.P49S	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	49			P -> L (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CACCTGCTCGGAGCATCGGGC	0.657000													61	196					0	0	0.014410	0	0
RBBP6	5930	broad.mit.edu	37	16	24580295	24580295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:24580295C>T	ENST00000319715.4	+	17	2716	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P728S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	762					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGGTCACCCCCTTACAGACG	0.483000													4	27					0	0	0.009096	0	0
RGPD3	653489	broad.mit.edu	37	2	107084678	107084678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:107084678G>A	ENST00000409886.3	-	1	154	c.67C>T	c.(67-69)Cga>Tga	p.R23*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.R23*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	23					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCACCTTTCGAGGCGACGGG	0.716000													5	8					0	0	0.014758	0	0
ATP12A	479	broad.mit.edu	37	13	25281469	25281469	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:25281469G>A	ENST00000218548.6	+	17	2742	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	ATP12A_ENST00000381946.3_Silent_p.K797K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	797					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCTGACCAAGAACATTGCCG	0.502000													22	85					0	0	0.016522	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587228	33587228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:33587228C>T	ENST00000170564.2	+	7	1042	c.728C>T	c.(727-729)cCc>cTc	p.P243L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	243						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCCTGGATCCCCACCAGGCA	0.453000													50	79					0	0	0.014410	0	0
EEPD1	80820	broad.mit.edu	37	7	36338663	36338663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:36338663G>A	ENST00000242108.4	+	8	2276	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	EEPD1_ENST00000534978.1_Missense_Mutation_p.D520N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	520					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TTGGATTCCGGATAACTGGTC	0.587000													14	67					0	0	0.020292	0	0
DNAH2	146754	broad.mit.edu	37	17	7661813	7661813	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7661813G>A	ENST00000572933.1	+	14	3512	c.2051_splice	c.e14-1	p.R684_splice	DNAH2_ENST00000389173.2_Splice_Site_p.R684_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	684	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTATGCACAGGATTATTGCCA	0.502000													19	99					0	0	0.008871	0	0
GFPT2	9945	broad.mit.edu	37	5	179743970	179743970	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:179743970G>A	ENST00000253778.8	-	11	1216	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	349					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TACCTGTGTTGGTTTCAAAAT	0.483000													6	47					0	0	0.001984	0	0
FNDC3A	22862	broad.mit.edu	37	13	49749546	49749546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr13:49749546C>T	ENST00000492622.2	+	13	1704	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P467S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P411S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	467	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGGCTGTGCTCCTTCTATGCC	0.383000													8	23					0	0	0.008291	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407095	47407095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:47407095G>A	ENST00000310638.4	-	1	42	c.11C>T	c.(10-12)tCt>tTt	p.S4F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.S4F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S4F|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	4					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTCAGCACAGAGACACTCAT	0.597000													13	48					0	0	0.020292	0	0
TTLL3	26140	broad.mit.edu	37	3	9867621	9867621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:9867621C>T	ENST00000383827.1	+	2	2508	c.227C>T	c.(226-228)tCc>tTc	p.S76F	TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.S76F|TTLL3_ENST00000547186.1_Missense_Mutation_p.S288F|TTLL3_ENST00000397241.1_Missense_Mutation_p.S76F|TTLL3_ENST00000426895.4_Missense_Mutation_p.S431F|TTLL3_ENST00000427853.3_Missense_Mutation_p.S76F|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.S349F|TTLL3_ENST00000455274.1_Missense_Mutation_p.S76F			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	288					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGAGCCAAGTCCCGCGGACGA	0.587000													3	18					0	0	0.009096	0	0
WDR44	54521	broad.mit.edu	37	X	117527160	117527160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:117527160C>T	ENST00000254029.3	+	4	1147	c.752C>T	c.(751-753)tCt>tTt	p.S251F	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.S251F|WDR44_ENST00000371822.5_Missense_Mutation_p.S226F	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	251	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCACCTCCTTCTCGACCTGCT	0.463000													21	125					0	0	0.021523	0	0
TENM1	10178	broad.mit.edu	37	X	123615780	123615780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:123615780C>T	ENST00000422452.2	-	22	3814	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.D1244N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GACACAGGGTCCATAGCCAGA	0.418000													9	52					0	0	0.004482	0	0
NHS	4810	broad.mit.edu	37	X	17745908	17745908	+	Missense_Mutation	SNP	C	C	T	rs138311675		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:17745908C>T	ENST00000380060.3	+	6	3957	c.3619C>T	c.(3619-3621)Cgc>Tgc	p.R1207C	NHS_ENST00000398097.3_Missense_Mutation_p.R1051C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1207						nucleus		p.R1207C(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGTGAAGAATCGCTGCGATCC	0.403000													20	96					0	0	0.010504	0	0
PLBD1	79887	broad.mit.edu	37	12	14695164	14695164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:14695164C>T	ENST00000240617.5	-	3	1049	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	133					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCACTTTATCCATGATGGAA	0.333000													5	29					0	0	0.001984	0	0
NOC2L	26155	broad.mit.edu	37	1	889264	889264	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:889264G>A	ENST00000327044.6	-	8	835	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	262						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCGACAGACAGGACACCAGCT	0.627000													4	24					0	0	0.009096	0	0
POTEA	340441	broad.mit.edu	37	8	43157211	43157211	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:43157211G>A	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGTATTTGGACAAACTGCT	0.308000													12	36					0	0	0.010729	0	0
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:124413431C>T	ENST00000306842.2	-	1	144	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502000													5	40					0	0	0.014758	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:134134532G>A	ENST00000285930.4	-	4	448	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000													24	79					0	0	0.027356	0	0
CRNN	49860	broad.mit.edu	37	1	152382907	152382907	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:152382907C>T	ENST00000271835.3	-	3	713	c.651G>A	c.(649-651)caG>caA	p.Q217Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	217	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCTCTGTCCTGTTCCCTGG	0.577000													66	156					0	0	0.014410	0	0
DDR2	4921	broad.mit.edu	37	1	162740135	162740135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:162740135C>T	ENST00000367922.2	+	13	1775	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	DDR2_ENST00000367921.3_Missense_Mutation_p.S446F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	446					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GTCAGCCTTTCCCTGCCAAGT	0.493000													30	89					0	0	0.012213	0	0
NID2	22795	broad.mit.edu	37	14	52520650	52520650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:52520650G>A	ENST00000216286.5	-	5	1075	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	NID2_ENST00000541773.1_Missense_Mutation_p.S306F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	359						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCAAGGTGGAAGATTCTGT	0.502000													9	54					0	0	0.006214	0	0
CACNG2	10369	broad.mit.edu	37	22	37098431	37098431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:37098431C>T	ENST00000300105.6	-	1	1172	c.191G>A	c.(190-192)tGg>tAg	p.W64*		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	64					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCAGGTTCTCCATAATCCGGA	0.527000													17	65					0	0	0.008871	0	0
HNF4G	3174	broad.mit.edu	37	8	76476297	76476297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:76476297C>T	ENST00000396423.2	+	10	1428	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	HNF4G_ENST00000354370.1_Missense_Mutation_p.S398L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	398					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCAGTCATTTCACACCAGCAT	0.418000													16	42					0	0	0.004990	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:125261995C>T	ENST00000431078.1	+	8	1550	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	396	Laminin G-like 2.				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)		TTTCCAGTTTCGAACATGGAA	0.552000													9	43					0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11539999	11539999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:11539999G>A	ENST00000262442.3	+	9	1752	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D562N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	562	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTAGCGAGGGATACATCTGA	0.453000													12	60					0	0	0.013537	0	0
DCTN1	1639	broad.mit.edu	37	2	74598270	74598270	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:74598270G>A	ENST00000361874.3	-	9	996	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	DCTN1_ENST00000394003.3_Silent_p.L220L|DCTN1_ENST00000409868.1_Silent_p.L210L|DCTN1_ENST00000407639.2_Silent_p.L93L|DCTN1_ENST00000409240.1_Silent_p.L190L|DCTN1_ENST00000409438.1_Silent_p.L93L|DCTN1_ENST00000409567.3_Silent_p.L207L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	227					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCTCCTCCAGGTCCCGCACC	0.567000													40	177					0	0	0.009718	0	0
OR5K1	26339	broad.mit.edu	37	3	98189118	98189118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:98189118G>A	ENST00000332650.5	+	1	795	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAAAGAGGGAAGGGCCAAA	0.343000													14	35					0	0	0.016723	0	0
OR2W5	441932	broad.mit.edu	37	1	247654744	247654744	+	RNA	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:247654744G>A	ENST00000522351.1	+	0	375							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACATCTACATGATGCTGGGCT	0.597000													31	52					0	0	0.010818	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564728	100564728	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:100564728C>T	ENST00000397112.4	-	0	585					NR_036632.1															large_intestine(1)|lung(3)	4						TAACTGCTCCCTTAGGGCTCC	0.483000													11	49					0	0	0.013537	0	0
OR8D4	338662	broad.mit.edu	37	11	123777304	123777304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:123777304C>T	ENST00000321355.2	+	1	196	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCGTCAACTTCATACCCCCAT	0.408000													21	94					0	0	0.010504	0	0
FOXA1	3169	broad.mit.edu	37	14	38061747	38061747	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr14:38061747G>T	ENST00000250448.2	-	2	303	c.242C>A	c.(241-243)gCa>gAa	p.A81E	FOXA1_ENST00000540786.1_Missense_Mutation_p.A48E|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	81					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCCGGCTACTGCGCCGGGACT	0.687000													13	37					2.27111e-07	2.49033e-07	0.013537	1	0
HERC1	8925	broad.mit.edu	37	15	63932434	63932434	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:63932434G>A	ENST00000443617.2	-	61	11905	c.11818C>T	c.(11818-11820)Ctg>Ttg	p.L3940L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3940					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCATTGGTCAGGGCTTCGGCA	0.463000													19	70					0	0	0.010504	0	0
TSHB	7252	broad.mit.edu	37	1	115576094	115576094	+	Silent	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:115576094T>C	ENST00000256592.1	+	2	179	c.111T>C	c.(109-111)gcT>gcC	p.A37A	TSHB_ENST00000369517.1_Silent_p.A37A	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	37					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GAGAGTGTGCTTATTGCCTAA	0.413000													12	84					0	0	0.016723	0	0
NOL9	79707	broad.mit.edu	37	1	6605139	6605139	+	Silent	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:6605139A>G	ENST00000377705.5	-	4	878	c.846T>C	c.(844-846)ctT>ctC	p.L282L		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	282					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGCTGAAAGGGTACTCT	0.443000													27	72					0	0	0.007291	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041442	86041442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:86041442C>T	ENST00000414626.2	+	9	2283	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	LRRCC1_ENST00000360375.3_Missense_Mutation_p.S485F			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	485					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAGAGAAATTCCAAAGGACAA	0.294000													17	93					0	0	0.004990	0	0
THSD7A	221981	broad.mit.edu	37	7	11452340	11452340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:11452340C>T	ENST00000423059.3	-	18	3876	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1209	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTTCTTTCTCAACAGCATTA	0.418000										HNSCC(18;0.044)			5	23					0	0	0.014758	0	0
SH2B1	25970	broad.mit.edu	37	16	28883930	28883930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:28883930C>T	ENST00000337120.5	+	7	5092	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	SH2B1_ENST00000359285.5_Missense_Mutation_p.L601F|SH2B1_ENST00000322610.8_Missense_Mutation_p.L601F|SH2B1_ENST00000395532.4_Missense_Mutation_p.L601F|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.L265F|SH2B1_ENST00000545570.1_Missense_Mutation_p.L291F	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	601	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTTCGATATGCTCGAGCACTT	0.607000													12	46					0	0	0.013537	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032123	10032123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr16:10032123C>T	ENST00000396573.2	-	4	1009	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D234N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D234N|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D234N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D77N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D234N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	234					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGCCTCGTCTTTGGAACAG	0.512000													14	38					0	0	0.020292	0	0
TGM7	116179	broad.mit.edu	37	15	43571937	43571937	+	Missense_Mutation	SNP	G	G	A	rs143155861	byFrequency	TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr15:43571937G>A	ENST00000452443.2	-	10	1568	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	522					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ATGGGCCCCCGAGGGTGGGTG	0.662000													11	44					0	0	0.008291	0	0
IGF1	3479	broad.mit.edu	37	12	102811618	102811618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:102811618C>T	ENST00000307046.8	-	4	747	c.566G>A	c.(565-567)tGc>tAc	p.C189Y	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000456098.1_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	189					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TTTGCCTCTGCATTCAGCATT	0.458000													35	204					0	0	0.025465	0	0
ABCA13	154664	broad.mit.edu	37	7	48431653	48431653	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:48431653C>T	ENST00000435803.1	+	38	11814	c.11790C>T	c.(11788-11790)ctC>ctT	p.L3930L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3930	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGACAACCTCACCGTCCGGG	0.507000													7	33					0	0	0.004482	0	0
ZNF677	342926	broad.mit.edu	37	19	53740413	53740413	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:53740413C>G	ENST00000333952.4	-	5	1732	c.1567G>C	c.(1567-1569)Gct>Cct	p.A523P	ZNF677_ENST00000598513.1_Missense_Mutation_p.A523P			Q86XU0	ZN677_HUMAN	zinc finger protein 677	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A523S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGGGTAAAAGCTTTGCCACAT	0.343000													7	32					0	0	0.001984	0	0
WWC2	80014	broad.mit.edu	37	4	184182164	184182164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:184182164C>T	ENST00000403733.3	+	11	1587	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	WWC2_ENST00000504005.1_Missense_Mutation_p.S145F|WWC2_ENST00000448232.2_Missense_Mutation_p.S463F|WWC2_ENST00000513834.1_Missense_Mutation_p.S463F|WWC2_ENST00000378925.3_Missense_Mutation_p.S365F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	463	Ser-rich.									NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCACTCAACTCCCTCAGTTCC	0.517000													4	12					0	0	0.001984	0	0
CKM	1158	broad.mit.edu	37	19	45811753	45811753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:45811753C>T	ENST00000221476.3	-	6	865	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	231	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TGATCCTCCTCGTTCACCCAC	0.602000													20	53					0	0	0.016522	0	0
GLP2R	9340	broad.mit.edu	37	17	9792967	9792967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:9792967G>A	ENST00000262441.5	+	13	2120	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	GLP2R_ENST00000574745.1_Missense_Mutation_p.G356E	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	536					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGCAGTGAGGGGGATGTCACC	0.627000													3	7					0	0	0.004672	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020298	156020298	+	Silent	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:156020298A>C	ENST00000368309.3	-	4	617	c.525T>G	c.(523-525)tcT>tcG	p.S175S	UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	175						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGAAGTTGGCAGAGCCCAGGC	0.592000													6	49					0	0	0.021553	0	0
ST14	6768	broad.mit.edu	37	11	130066550	130066550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:130066550G>A	ENST00000278742.5	+	11	1727	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	437	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTCCTACACCGACACCGGCTT	0.582000													8	42					0	0	0.008291	0	0
LILRP2	79166	broad.mit.edu	37	19	55221645	55221645	+	RNA	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:55221645C>T	ENST00000413439.1	+	0	1415																											GGTGAGGAGCCCAGCAGGTTC	0.672000													19	14					0	0	0.008871	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744719	135744719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:135744719G>A	ENST00000375845.3	-	7	1753	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462S|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CCCAAAGCCGGGAAAATTTGT	0.438000													15	38					0	0	0.020292	0	0
ZNF461	92283	broad.mit.edu	37	19	37130870	37130870	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:37130870A>G	ENST00000588268.1	-	6	604	c.377T>C	c.(376-378)gTt>gCt	p.V126A	ZNF461_ENST00000360357.4_Missense_Mutation_p.V103A|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCCATGTTAACCCACTGGGA	0.388000													22	92					0	0	0.014323	0	0
SPTA1	6708	broad.mit.edu	37	1	158585013	158585013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:158585013G>A	ENST00000368148.3	-	48	6961	c.6781C>T	c.(6781-6783)Cag>Tag	p.Q2261*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q2258*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2261					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			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)					TACTTGGCCTGGATCTGTTGC	0.527000													33	135					0	0	0.017118	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313571	233313571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:233313571G>A	ENST00000258229.8	-	17	3484	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	PCNXL2_ENST00000488780.2_Missense_Mutation_p.P217S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1084						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCTTCTTGGGGAGAGGGTCA	0.443000													6	36					0	0	0.021553	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801522	128801522	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:128801522G>A	ENST00000289407.4	+	2	214	c.105G>A	c.(103-105)gtG>gtA	p.V35V		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	35						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTCCACAGGTGATTTCCATGG	0.557000													15	87					0	0	0.028581	0	0
RAD54L2	23132	broad.mit.edu	37	3	51696603	51696603	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:51696603T>A	ENST00000409535.1	+	22	3696	c.3571T>A	c.(3571-3573)Tcc>Acc	p.S1191T	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S885T	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1191						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGCCCGGGAATCCCGTCAGAG	0.652000													4	33					0	0	0.014758	0	0
DCST2	127579	broad.mit.edu	37	1	155002970	155002970	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:155002970G>A	ENST00000368424.3	-	6	1015	c.957C>T	c.(955-957)gtC>gtT	p.V319V	DCST2_ENST00000295536.5_Silent_p.V319V	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	319						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCCTCTCGGACACGGTGCA	0.642000													5	29					0	0	0.014758	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33048570	33048570	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:33048570C>T	ENST00000418931.2	+	2	338	c.222C>T	c.(220-222)ttC>ttT	p.F74F	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Silent_p.F74F	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	74	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGGGGGAGTTCCGGGCGGTGA	0.627000													5	49					0	0	0.001984	0	0
MORC2	22880	broad.mit.edu	37	22	31332988	31332988	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:31332988A>T	ENST00000215862.4	-	17	2712	c.1349T>A	c.(1348-1350)cTg>cAg	p.L450Q	MORC2_ENST00000397641.2_Missense_Mutation_p.L512Q|MORC2_ENST00000469915.1_5'UTR	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	512							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CACAGAACTCAGCTGGAAGGG	0.498000													6	37					0	0	0.001984	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447941	96447941	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:96447941C>T	ENST00000285979.6	+	3	590	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.L131L	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CCTCATGACTCTGCGGAATTT	0.502000													7	32					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	168108395	168108395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:168108395C>T	ENST00000409195.1	+	9	10582	c.10493C>T	c.(10492-10494)aCc>aTc	p.T3498I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3498I|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3276I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3323					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						GGATATGCAACCGCAGATGCT	0.373000													8	23					0	0	0.003080	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512224	47512224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:47512224G>A	ENST00000371901.3	+	9	1409	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	CYP4X1_ENST00000538609.1_Missense_Mutation_p.D386N	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	387						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATTTCCAGAGATCTCAGCAA	0.512000													16	34					0	0	0.024245	0	0
ZFP57	346171	broad.mit.edu	37	6	29641432	29641432	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:29641432G>A	ENST00000376883.1	-	6	807	c.396C>T	c.(394-396)ccC>ccT	p.P132P	ZFP57_ENST00000488757.1_Silent_p.P152P|ZFP57_ENST00000376881.3_Silent_p.P132P			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	78					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGGCAGATAGGGGGCACTGGC	0.557000													36	67					0	0	0.019004	0	0
LYNX1	66004	broad.mit.edu	37	8	143846092	143846092	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:143846092G>A	ENST00000335822.5	-	5	954	c.327C>T	c.(325-327)atC>atT	p.I109I	LYNX1_ENST00000317543.7_Silent_p.I75I|LYNX1_ENST00000523332.1_Intron|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	75						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCAGGCTGGGGATATCGGGGC	0.637000													18	65					0	0	0.006122	0	0
LRRC17	10234	broad.mit.edu	37	7	102579963	102579963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:102579963G>A	ENST00000249377.4	+	3	1140	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.E287K|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000456695.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	287					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						TCGACCCAAGGAATTTGAAGA	0.383000													13	52					0	0	0.013537	0	0
THEG	51298	broad.mit.edu	37	19	371237	371237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:371237G>A	ENST00000342640.4	-	6	763	c.721C>T	c.(721-723)Cgt>Tgt	p.R241C	THEG_ENST00000346878.2_Missense_Mutation_p.R217C	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	241					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		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)		AAGTTATCACGAATCTTCGGG	0.657000													25	106					0	0	0.027356	0	0
PRKD2	25865	broad.mit.edu	37	19	47192806	47192806	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:47192806G>A	ENST00000433867.1	-	15	2436	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	PRKD2_ENST00000291281.4_Silent_p.F653F|PRKD2_ENST00000600194.1_Silent_p.F496F|PRKD2_ENST00000595515.1_Silent_p.F653F|PRKD2_ENST00000601806.1_Silent_p.F496F	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	653	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGGTGATGAGGAACTTGGTGA	0.607000													5	12					0	0	0.014758	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359259	64359259	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:64359259C>T	ENST00000377574.1	+	1	978	c.231C>T	c.(229-231)atC>atT	p.I77I	SLC22A12_ENST00000377572.1_Silent_p.I77I|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.I77I|SLC22A12_ENST00000336464.7_Silent_p.I77I	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	77					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTATTTCCATCCCGCCGGGCC	0.687000													6	23					0	0	0.001984	0	0
ZNF236	7776	broad.mit.edu	37	18	74620486	74620486	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr18:74620486G>A	ENST00000253159.8	+	14	2700	c.2502G>A	c.(2500-2502)ggG>ggA	p.G834G	ZNF236_ENST00000320610.9_Silent_p.G836G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	834					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGAAGCAGGGCTGGGCCAGC	0.582000													15	48					0	0	0.028581	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857265	140857265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:140857265G>A	ENST00000308177.3	+	1	1686	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAGACTATGAGGATCGGCG	0.493000													11	34					0	0	0.016723	0	0
KRT6A	3853	broad.mit.edu	37	12	52885419	52885419	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr12:52885419G>A	ENST00000330722.6	-	2	710	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	214	Linker 1.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTACTGCTCGAACAACGGCT	0.597000													13	52					0	0	0.016723	0	0
OR5H2	79310	broad.mit.edu	37	3	98002107	98002107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:98002107G>A	ENST00000355273.2	+	1	376	c.376G>A	c.(376-378)Gat>Aat	p.D126N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATGGCATATGATCGCTATGT	0.373000													8	44					0	0	0.004482	0	0
AGXT2	64902	broad.mit.edu	37	5	35010122	35010122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:35010122C>T	ENST00000231420.6	-	12	1521	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	441					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGCACCATTTCTATGCCTATC	0.453000													4	34					0	0	0.009096	0	0
XIRP1	165904	broad.mit.edu	37	3	39228015	39228015	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:39228015G>A	ENST00000340369.3	-	2	3150	c.2922C>T	c.(2920-2922)ccC>ccT	p.P974P	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.P974P	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	974							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTCCAGTGGGGGAACATGGA	0.667000													8	35					0	0	0.004482	0	0
GLRB	2743	broad.mit.edu	37	4	158057765	158057765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:158057765G>A	ENST00000264428.4	+	5	712	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	GLRB_ENST00000509282.1_Missense_Mutation_p.E148K|GLRB_ENST00000541722.1_Missense_Mutation_p.E148K|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	148					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGCAAATGAAAAAAGTGC	0.393000													24	75					0	0	0.027356	0	0
ACAP1	9744	broad.mit.edu	37	17	7252386	7252386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:7252386C>T	ENST00000158762.3	+	18	1957	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	584	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CATCCTCCATCTCTTCCCACC	0.602000													7	45					0	0	0.003080	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132797	64132797	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:64132797T>C	ENST00000295902.6	-	7	1954	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.M513V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	457						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGTCCTGTCATGGCCAGTGAC	0.557000													19	72					0	0	0.008871	0	0
ITGA10	8515	broad.mit.edu	37	1	145535871	145535871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:145535871C>T	ENST00000369304.3	+	16	2234	c.2059C>T	c.(2059-2061)Cgt>Tgt	p.R687C	ITGA10_ENST00000538811.1_Missense_Mutation_p.R556C|ITGA10_ENST00000539363.1_Missense_Mutation_p.R544C	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	687					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTGACCTCCCGTACTCCTGG	0.547000													12	53					0	0	0.016723	0	0
SCG2	7857	broad.mit.edu	37	2	224462447	224462447	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:224462447G>A	ENST00000305409.2	-	2	1786	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	518					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)		TTGAATTAATGATCTCAGGGT	0.428000													13	47					0	0	0.013537	0	0
TGFBI	7045	broad.mit.edu	37	5	135396580	135396580	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:135396580A>C	ENST00000442011.2	+	14	2022	c.1861A>C	c.(1861-1863)Aca>Cca	p.T621P	TGFBI_ENST00000305126.8_Missense_Mutation_p.T621P|TGFBI_ENST00000508076.1_Missense_Mutation_p.T3P	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	621	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCATGGCCACAAATGGCGT	0.473000													5	10					0	0	0.001984	0	0
CRB1	23418	broad.mit.edu	37	1	197390665	197390665	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr1:197390665C>T	ENST00000367400.3	+	6	1842	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CRB1_ENST00000367399.2_Silent_p.F457F|CRB1_ENST00000538660.1_Silent_p.F569F|CRB1_ENST00000543483.1_Silent_p.F268F|CRB1_ENST00000544212.1_Silent_p.F50F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.F500F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	569	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	p.F569F(1)		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						AGTGGCATTTCGTGGAGGTAA	0.453000													26	77					0	0	0.021523	0	0
CLCN5	1184	broad.mit.edu	37	X	49855004	49855004	+	Missense_Mutation	SNP	G	G	A	rs140246004		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chrX:49855004G>A	ENST00000376088.3	+	13	2617	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	CLCN5_ENST00000307367.2_Missense_Mutation_p.R589Q|CLCN5_ENST00000376108.3_Missense_Mutation_p.R589Q|CLCN5_ENST00000376091.3_Missense_Mutation_p.R659Q	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	589					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGAAACCCCGGAGAAATGAT	0.463000													9	58					0	0	0.006214	0	0
SGSM1	129049	broad.mit.edu	37	22	25294253	25294253	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr22:25294253G>A	ENST00000400358.4	+	19	2394	c.2337G>A	c.(2335-2337)caG>caA	p.Q779Q	SGSM1_ENST00000400359.4_Silent_p.Q834Q	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	834	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGCCGTGCAGGACAGCCTGG	0.632000													8	19					0	0	0.004482	0	0
SPATS1	221409	broad.mit.edu	37	6	44310878	44310878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr6:44310878C>T	ENST00000288390.2	+	1	393	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	SPATS1_ENST00000323108.8_Missense_Mutation_p.L16F			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	16										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCTGCCGTCTCCCCTCCAT	0.522000													5	39					0	0	0.021553	0	0
XDH	7498	broad.mit.edu	37	2	31569643	31569643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:31569643C>T	ENST00000379416.3	-	30	3391	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1115					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACCCAGTCTTCCCAGGAGCCA	0.512000													19	103					0	0	0.016522	0	0
ANKHD1	54882	broad.mit.edu	37	5	139838938	139838938	+	Missense_Mutation	SNP	C	C	T	rs141407377		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:139838938C>T	ENST00000297183.6	+	9	1794	c.1670C>T	c.(1669-1671)tCt>tTt	p.S557F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S557F|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S546F|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S557F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S557F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTGGCTTCTGGTATGTGG	0.403000													6	52					0	0	0.004482	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128647	150128647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr3:150128647C>T	ENST00000361875.2	+	1	2526	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P504S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	504							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCCGTGGTGCCCGGAGTTCC	0.672000													7	22					0	0	0.006214	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437347	5437347	+	Silent	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr10:5437347G>A	ENST00000380419.3	-	3	376	c.339C>T	c.(337-339)ggC>ggT	p.G113G	TUBAL3_ENST00000479328.1_Silent_p.G73G	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	113					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGAGTAACGGCCTCGCGCGT	0.637000													10	89					0	0	0.008291	0	0
HOXD3	3232	broad.mit.edu	37	2	177036546	177036546	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr2:177036546C>T	ENST00000468418.3	+	4	2933	c.843C>T	c.(841-843)gcC>gcT	p.A281A	HOXD3_ENST00000249440.3_Silent_p.A281A|HOXD3_ENST00000410016.1_Silent_p.A281A			P31249	HXD3_HUMAN	homeobox D3	281					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCACGTGGCCTACTCCGGCC	0.697000													6	22					0	0	0.021553	0	0
INTS1	26173	broad.mit.edu	37	7	1527399	1527399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr7:1527399G>A	ENST00000389470.4	-	20	2896	c.2897C>T	c.(2896-2898)cCc>cTc	p.P966L	INTS1_ENST00000404767.3_Missense_Mutation_p.P838L			Q8N201	INT1_HUMAN	integrator complex subunit 1	838					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCGTACTGGGGGTCCAGGCT	0.692000													6	13					0	0	0.003080	0	0
PSG5	5673	broad.mit.edu	37	19	43680107	43680107	+	Silent	SNP	C	C	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:43680107C>T	ENST00000404580.1	-	3	712	c.624G>A	c.(622-624)acG>acA	p.T208T	PSG5_ENST00000366175.3_Silent_p.T208T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Silent_p.T208T|PSG5_ENST00000342951.6_Silent_p.T208T|PSG5_ENST00000599812.1_Silent_p.T301T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	208	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTCATTTCTCGTGACACTGG	0.498000													23	125					0	0	0.008361	0	0
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													4	5	---	---	---	---					
AFF4	27125	broad.mit.edu	37	5	132232044	132232044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr5:132232044delC	ENST00000265343.5	-	11	2657	c.2278delG	c.(2278-2280)ttfs	p.V760fs	AFF4_ENST00000378595.3_Frame_Shift_Del_p.V760fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	760					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTTGGAAACTTTTTCTGAG	0.433													17	78	---	---	---	---					
LINC00529	83647	broad.mit.edu	37	8	11114061	11114062	+	RNA	INS	-	-	A			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr8:11114061_11114062insA	ENST00000443854.1	-	0	77																											GCCTCCAGGCCAAAAAGAAGGA	0.490													2	4	---	---	---	---					
FAM111A	63901	broad.mit.edu	37	11	58919775	58919776	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:58919775_58919776delTG	ENST00000528737.1	+	5	3452_3453	c.634_635delTG	c.(634-636)tfs	p.C212fs	FAM111A_ENST00000420244.1_Frame_Shift_Del_p.C212fs|FAM111A_ENST00000533703.1_Frame_Shift_Del_p.C212fs|FAM111A_ENST00000361723.3_Frame_Shift_Del_p.C212fs|FAM111A_ENST00000531147.1_Frame_Shift_Del_p.C212fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	212					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GCGCAAACTCTGTGTTTATGCT	0.386													10	44	---	---	---	---					
HRASLS5	117245	broad.mit.edu	37	11	63257736	63257743	+	Frame_Shift_Del	DEL	TGTTCTAA	TGTTCTAA	-			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr11:63257736_63257743delTGTTCTAA	ENST00000540857.1	-	2	343_350	c.211_218delTTAGAACA	c.(211-219)gfs	p.LEQ71fs	HRASLS5_ENST00000539221.1_Frame_Shift_Del_p.LEQ81fs|HRASLS5_ENST00000301790.4_Frame_Shift_Del_p.LEQ81fs	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	81								p.L81L(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCTTCTGCCCTGTTCTAATGTGCCCGGC	0.486													34	220	---	---	---	---					
HOXB8	3218	broad.mit.edu	37	17	46690839	46690840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr17:46690839_46690840insG	ENST00000239144.4	-	2	690_691	c.456_457insC	c.(454-459)acacagfs	p.Q153fs	HOXB8_ENST00000576562.1_Frame_Shift_Ins_p.Q152fs|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TAGCGGCTGTAGGTCTGTCGGC	0.639													16	87	---	---	---	---					
KXD1	79036	broad.mit.edu	37	19	18677989	18677990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2GD-06A-11D-A196-08	TCGA-EE-A2GD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecc80084-895a-4810-b1ec-a1039aa7260d	b42231d7-56a6-4b1b-8477-406f3b32c8e7	g.chr19:18677989_18677990insT	ENST00000598830.1	+	3	839_840	c.302_303insT	c.(301-303)caafs	p.Q101fs	KXD1_ENST00000599319.1_Splice_Site|KXD1_ENST00000599000.1_Frame_Shift_Ins_p.Q101fs|KXD1_ENST00000602094.1_Splice_Site|KXD1_ENST00000601630.1_Splice_Site|KXD1_ENST00000595073.1_Splice_Site|KXD1_ENST00000539106.1_Splice_Site|KXD1_ENST00000222307.4_Splice_Site|KXD1_ENST00000540691.1_Splice_Site			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	101							protein binding										GCCTTCAGCCGTAAGTGTCACG	0.629													5	11	---	---	---	---					
