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
CHRNG	1146	broad.mit.edu	37	2	233406237	233406237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:233406237C>A	ENST00000389494.3	+	5	525	c.504C>A	c.(502-504)ttC>ttA	p.F168L	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	168					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCTTATCTTCCAGTGAGGCC	0.582000													35	102					6.05902e-23	1.54698e-22	0.003755	1	0
APLP2	334	broad.mit.edu	37	11	129979472	129979472	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:129979472A>T	ENST00000543137.1	+	0	329				APLP2_ENST00000345598.5_Missense_Mutation_p.E85V|APLP2_ENST00000338167.5_Missense_Mutation_p.E85V|APLP2_ENST00000278756.7_Missense_Mutation_p.E95V|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000263574.5_Missense_Mutation_p.E85V|APLP2_ENST00000528499.1_Missense_Mutation_p.E85V|APLP2_ENST00000539648.1_Intron	NM_001243299.1	NP_001230228.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2						G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAAACAAAAGAAGAAGTTCTT	0.403000													14	21					0	0	0.003163	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781799	128781799	+	Missense_Mutation	SNP	C	C	T	rs143790141		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:128781799C>T	ENST00000529694.1	+	2	1007	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	KCNJ5_ENST00000338350.4_Missense_Mutation_p.R211W|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R211W	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	211					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATCTCCATGCGGGACGAGAA	0.587000													18	65					0	0	0.006122	0	0
LRRK2	120892	broad.mit.edu	37	12	40646775	40646775	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:40646775C>T	ENST00000298910.7	+	11	1303	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	LRRK2_ENST00000343742.2_Silent_p.F415F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	415					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAAGTTTTCCAGGCATCTG	0.363000													13	28					0	0	0.001855	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035195	110035195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:110035195G>A	ENST00000453089.2	+	5	2173	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.G462E|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.G463E			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	462							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAAACGAAGGAGGACTGGTG	0.493000													25	30					0	0	0.003954	0	0
SLTM	79811	broad.mit.edu	37	15	59185178	59185178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:59185178G>A	ENST00000380516.2	-	14	1903	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	SLTM_ENST00000536328.1_Missense_Mutation_p.P175S|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	606	Arg/Glu-rich.			P -> S (in Ref. 3; AAH14944).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCAAAAGGCAAGATCTCT	0.368000													12	38					0	0	0.010729	0	0
TRIB3	57761	broad.mit.edu	37	20	368670	368670	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:368670C>T	ENST00000217233.3	+	2	569	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	TRIB3_ENST00000422053.2_Silent_p.L33L|TRIB3_ENST00000485293.1_3'UTR	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	6					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AGCCACCCCTCTGGCTGCTCC	0.572000													19	76					0	0	0.007413	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													4	66					0	0	0.009096	0	0
ESRRB	2103	broad.mit.edu	37	14	76948418	76948418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:76948418G>A	ENST00000380887.2	+	4	646	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ESRRB_ENST00000261532.7_Missense_Mutation_p.E192K|ESRRB_ENST00000509242.1_Missense_Mutation_p.E192K|ESRRB_ENST00000556177.1_Missense_Mutation_p.E192K|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCTGGACTCAGAGAGCAGCCC	0.527000													5	59					0	0	0.000602	0	0
FLT1	2321	broad.mit.edu	37	13	28959102	28959102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:28959102G>T	ENST00000282397.4	-	14	2287	c.2036C>A	c.(2035-2037)aCt>aAt	p.T679N	FLT1_ENST00000541932.1_Missense_Mutation_p.T679N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	679	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACAGTCTAAAGTGGTGGAACT	0.448000													21	82					2.27731e-05	5.35837e-05	0.012319	1	0
TAP1	6890	broad.mit.edu	37	6	32816769	32816769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32816769C>T	ENST00000354258.4	-	6	1716	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TAP1_ENST00000425148.2_Missense_Mutation_p.E258K|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	519	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GACCTCACCTCCACAGCCTGG	0.532000													12	29					0	0	0.010729	0	0
LIN28A	79727	broad.mit.edu	37	1	26752814	26752814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:26752814G>C	ENST00000326279.6	+	4	609	c.495G>C	c.(493-495)caG>caC	p.Q165H	LIN28A_ENST00000254231.4_Missense_Mutation_p.Q165H	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	165					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTTCTGCCAGAGCATCAGCC	0.532000													9	54					0	0	0.004482	0	0
NCAN	1463	broad.mit.edu	37	19	19330033	19330033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:19330033G>A	ENST00000252575.5	+	3	426	c.383G>A	c.(382-384)gGg>gAg	p.G128E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	128	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTACTTCTGGGGCCACTGAGG	0.642000													9	12					0	0	0.008291	0	0
UVSSA	57654	broad.mit.edu	37	4	1379683	1379683	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:1379683C>T	ENST00000389851.4	+	14	2511	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	UVSSA_ENST00000512728.1_Silent_p.A239A|UVSSA_ENST00000507531.1_Silent_p.A688A|UVSSA_ENST00000511563.1_Silent_p.A239A|UVSSA_ENST00000511216.1_Silent_p.A688A|UVSSA_ENST00000507422.1_3'UTR	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	688																	TAGTGGCAGCCATGAACCGGA	0.592000													45	42					0	0	0.003610	0	0
DISP1	84976	broad.mit.edu	37	1	223177961	223177961	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:223177961C>T	ENST00000284476.6	+	8	3386	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1074					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTGATCTTCTCTCTGAGTC	0.587000													24	78					0	0	0.002299	0	0
HAS2	3037	broad.mit.edu	37	8	122626402	122626402	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:122626402T>C	ENST00000303924.4	-	4	2143	c.1606A>G	c.(1606-1608)Aag>Gag	p.K536E		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	536						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGCCACACTTATTGATGAGA	0.423000													62	100					0	0	0.003610	0	0
CAD	790	broad.mit.edu	37	2	27457394	27457394	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:27457394G>A	ENST00000264705.4	+	23	3789	c.3627G>A	c.(3625-3627)caG>caA	p.Q1209Q	CAD_ENST00000403525.1_Silent_p.Q1146Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1209	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGATGACCAGCTGAAAGTTA	0.547000													35	158					0	0	0.005524	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116737	220116737	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220116737C>T	ENST00000392088.2	-	2	729	c.174G>A	c.(172-174)acG>acA	p.T58T	TUBA4A_ENST00000248437.4_Silent_p.T73T|TUBA4A_ENST00000498660.1_Intron	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	73					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCAATGACCGTAGGCTCCA	0.527000													9	29					0	0	0.004482	0	0
ZNF100	163227	broad.mit.edu	37	19	21910770	21910770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:21910770T>A	ENST00000358296.6	-	5	542	c.344A>T	c.(343-345)cAa>cTa	p.Q115L	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q51L	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CCAAAGGTCTTGGGGAAAATG	0.303000													7	29					0	0	0.001984	0	0
SF3B1	23451	broad.mit.edu	37	2	198272767	198272767	+	Silent	SNP	T	T	C	rs71422649	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:198272767T>C	ENST00000335508.5	-	9	1285	c.1194A>G	c.(1192-1194)ccA>ccG	p.P398P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	398	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATCAGAAAGTGGGCGATTTC	0.358000			Mis		myelodysplastic syndrome								12	32					0	0	0.001855	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797434	34797434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:34797434G>A	ENST00000338074.2	+	15	1854	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	EPB41L1_ENST00000441639.1_Missense_Mutation_p.E491K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E456K|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E491K|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E565K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	565					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGAGGGCTCCGAGGAGAAAGT	0.552000													6	32					0	0	0.003080	0	0
MC1R	4157	broad.mit.edu	37	16	89986186	89986186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:89986186G>A	ENST00000555427.1	+	3	2823	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	TUBB3_ENST00000556922.1_Missense_Mutation_p.V174I|MC1R_ENST00000555147.1_Missense_Mutation_p.V174I					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCCAGTGTCGTCTTCAGCAC	0.632000									Melanoma, Familial Clustering of				12	58					0	0	0.001368	0	0
ERN2	10595	broad.mit.edu	37	16	23706682	23706682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:23706682C>T	ENST00000256797.4	-	15	1951	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	ERN2_ENST00000457008.2_Missense_Mutation_p.V495I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	547	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCGCTTGACAGCCACTGCC	0.612000													4	15					0	0	0.009096	0	0
APAF1	317	broad.mit.edu	37	12	99060002	99060002	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:99060002A>T	ENST00000357310.1	+	9	1806	c.1229A>T	c.(1228-1230)gAa>gTa	p.E410V	APAF1_ENST00000550527.1_Missense_Mutation_p.E399V|APAF1_ENST00000549007.1_Missense_Mutation_p.E410V|APAF1_ENST00000547045.1_Missense_Mutation_p.E410V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.E410V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.E399V|APAF1_ENST00000551964.1_Missense_Mutation_p.E410V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	410	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAAACTGAAGAAGTTGAAGAC	0.348000													19	68					0	0	0.007413	0	0
PRKCG	5582	broad.mit.edu	37	19	54401269	54401269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:54401269C>T	ENST00000536044.1	+	9	1204	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PRKCG_ENST00000263431.3_Silent_p.T332T|PRKCG_ENST00000542049.1_Silent_p.T219T|PRKCG_ENST00000540413.1_Silent_p.T332T			P05129	KPCG_HUMAN	protein kinase C, gamma	0					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		cTAGTCCCACCGACCCCAAGC	0.587000													11	81					0	0	0.010729	0	0
GPR158	57512	broad.mit.edu	37	10	25887168	25887168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:25887168G>T	ENST00000376351.3	+	11	2972	c.2613G>T	c.(2611-2613)gaG>gaT	p.E871D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	871						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						AGTCCACGGAGTCGGTGCCGT	0.498000													28	78					5.61819e-17	1.41437e-16	0.005443	1	0
ZNF621	285268	broad.mit.edu	37	3	40573572	40573572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:40573572C>G	ENST00000339296.5	+	5	763	c.311C>G	c.(310-312)tCt>tGt	p.S104C	ZNF621_ENST00000403205.2_Missense_Mutation_p.S104C|ZNF621_ENST00000310898.1_Missense_Mutation_p.S104C|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CAGGAAGCCTCTGAAGAAACA	0.423000													18	38					0	0	0.006122	0	0
ZNF304	57343	broad.mit.edu	37	19	57868268	57868268	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:57868268A>G	ENST00000391705.3	+	4	1315	c.1031A>G	c.(1030-1032)tAc>tGc	p.Y344C	ZNF304_ENST00000598744.1_Missense_Mutation_p.Y302C|ZNF304_ENST00000443917.2_Missense_Mutation_p.Y391C|ZNF304_ENST00000282286.5_Missense_Mutation_p.Y344C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAAAAGCCTACAGCAGAAGC	0.473000													16	37					0	0	0.006122	0	0
INHA	3623	broad.mit.edu	37	2	220439871	220439871	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220439871T>A	ENST00000243786.2	+	2	904	c.724T>A	c.(724-726)Tct>Act	p.S242T		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	242					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGGCCTTGGTCTCCCTCTGC	0.657000													9	38					0	0	0.006214	0	0
ANLN	54443	broad.mit.edu	37	7	36459871	36459871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:36459871C>T	ENST00000265748.2	+	11	2184	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	ANLN_ENST00000396068.2_Nonsense_Mutation_p.R618*	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	655	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCGTGTCCCTCGAGCTGAATC	0.443000													20	156					0	0	0.002299	0	0
SRCIN1	80725	broad.mit.edu	37	17	36734745	36734745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:36734745G>C	ENST00000264659.7	-	2	546	c.322C>G	c.(322-324)Cag>Gag	p.Q108E	SRCIN1_ENST00000578925.1_Missense_Mutation_p.Q108E	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	133					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCACTCACCTGCTCTCGCATC	0.701000													6	21					0	0	0.001984	0	0
SNPH	9751	broad.mit.edu	37	20	1285638	1285638	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:1285638T>A	ENST00000381867.1	+	7	1199	c.557T>A	c.(556-558)aTc>aAc	p.I186N	SNPH_ENST00000381873.3_Missense_Mutation_p.I142N			O15079	SNPH_HUMAN	syntaphilin	142					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGAAAGGAGATCAAGCAGCTC	0.562000													34	94					0	0	0.002836	0	0
MON1B	22879	broad.mit.edu	37	16	77229484	77229484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:77229484G>T	ENST00000248248.3	+	5	1698	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	MON1B_ENST00000439557.2_Missense_Mutation_p.D341Y|MON1B_ENST00000545553.1_Missense_Mutation_p.D304Y|MON1B_ENST00000320859.6_Silent_p.R113R	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	450							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCGGCTGTCGGACCTGTACCA	0.627000													7	40					5.4927e-09	1.35437e-08	0.004482	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44797689	44797689	+	Silent	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44797689C>G	ENST00000309315.4	+	6	918	c.795C>G	c.(793-795)gtC>gtG	p.V265V	ZMIZ2_ENST00000441627.1_Silent_p.V265V|ZMIZ2_ENST00000413916.1_Silent_p.V233V|ZMIZ2_ENST00000433667.1_Silent_p.V233V|ZMIZ2_ENST00000265346.7_Silent_p.V265V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	265	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGGGGGTCAAGAGAACCT	0.607000													14	72					0	0	0.003163	0	0
CDH17	1015	broad.mit.edu	37	8	95182707	95182707	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:95182707T>C	ENST00000027335.3	-	9	1108	c.984A>G	c.(982-984)gtA>gtG	p.V328V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V328V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	328	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTAACTTTTACATGAATTT	0.398000													22	94					0	0	0.010504	0	0
WNT3A	89780	broad.mit.edu	37	1	228210572	228210572	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:228210572C>T	ENST00000284523.1	+	2	354	c.276C>T	c.(274-276)caC>caT	p.H92H	WNT3A_ENST00000366753.2_Silent_p.H92H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	92					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCACCGTCCACGACAGCCTGG	0.652000													14	77					0	0	0.001855	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770919	145770919	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:145770919C>T	ENST00000276826.5	-	5	2436	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Silent_p.E745E|ARHGAP39_ENST00000540274.1_Silent_p.E745E			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTTGAAGAGCTCGCAGGCCT	0.632000													31	51					0	0	0.003271	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936942	119936942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:119936942C>T	ENST00000297350.4	-	5	1255	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	293	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGAAGCTGCTCGAAGGTGAGG	0.448000													16	111					0	0	0.004990	0	0
NACA	4666	broad.mit.edu	37	12	57114446	57114446	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:57114446G>C	ENST00000454682.1	-	3	1149	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	NACA_ENST00000550952.1_Missense_Mutation_p.Q290E|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGTCTTTTGAGAAGAGGTC	0.498000			T	BCL6	NHL								9	44					0	0	0.004482	0	0
ACP6	51205	broad.mit.edu	37	1	147131783	147131783	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:147131783T>C	ENST00000369238.5	-	2	774	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ACP6_ENST00000392988.2_Silent_p.Q109Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	109					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCTCATGGTATTGAGAGTCGT	0.517000													12	89					0	0	0.001855	0	0
ATP2B2	491	broad.mit.edu	37	3	10417306	10417306	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:10417306C>T	ENST00000397077.1	-	10	1664	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	ATP2B2_ENST00000352432.4_Silent_p.T408T|ATP2B2_ENST00000383800.4_Silent_p.T363T|ATP2B2_ENST00000343816.4_Silent_p.T394T|ATP2B2_ENST00000360273.2_Silent_p.T408T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	408					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATCACCGTGATGGCTG	0.562000													14	11					0	0	0.003163	0	0
PRSS1	5644	broad.mit.edu	37	7	142459768	142459768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:142459768C>G	ENST00000486171.1	+	4	403	c.386C>G	c.(385-387)tCa>tGa	p.S129*	PRSS1_ENST00000311737.7_Nonsense_Mutation_p.S115*			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	115	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AAGCTCTCCTCACGTGCAGTA	0.562000													28	149					0	0	0.007291	0	0
TOX3	27324	broad.mit.edu	37	16	52473857	52473857	+	Silent	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:52473857G>T	ENST00000219746.9	-	7	1295	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A	TOX3_ENST00000407228.3_Silent_p.A332A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	337					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGATGGTCTGGGCTTCTGCTG	0.433000													13	56					2.27111e-07	5.52432e-07	0.001368	1	0
SMCR8	140775	broad.mit.edu	37	17	18219330	18219330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18219330C>A	ENST00000406438.3	+	1	707	c.227C>A	c.(226-228)cCc>cAc	p.P76H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	76										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGACCATCCCCAATGACACC	0.502000													6	166					8.12818e-05	0.000188784	0.001984	1	0
PRTG	283659	broad.mit.edu	37	15	55931883	55931883	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:55931883G>T	ENST00000389286.4	-	13	2328	c.2281C>A	c.(2281-2283)Cct>Act	p.P761T		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	761	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGCCAACAGGATTACAGCGG	0.478000													16	82					3.32936e-07	8.04409e-07	0.006122	1	0
ALG1L2	644974	broad.mit.edu	37	3	129813348	129813348	+	RNA	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:129813348C>T	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										GGACTACCCCCGCTTCTAGGT	0.617000													6	20					0	0	0.001984	0	0
KIF21B	23046	broad.mit.edu	37	1	200944027	200944027	+	Silent	SNP	C	C	T	rs140999969		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:200944027C>T	ENST00000332129.2	-	33	4906	c.4590G>A	c.(4588-4590)gcG>gcA	p.A1530A	KIF21B_ENST00000360529.5_Silent_p.A1530A|KIF21B_ENST00000461742.2_Silent_p.A1543A|KIF21B_ENST00000422435.2_Silent_p.A1543A	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1543					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCCTTGTGCGCATTGGGGA	0.642000													16	131					0	0	0.004007	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191487	72191487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:72191487G>A	ENST00000555818.1	+	17	4960	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1517K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E992K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1517K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1538					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)		GTCCACCATTGAAGAAGATCT	0.478000													13	57					0	0	0.001368	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410230	32410230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32410230C>T	ENST00000395388.2	+	2	197	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.H30Y	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	30	Alpha-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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTCAGAAGAACATGTGATCAT	0.433000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				51	161					0	0	0.003610	0	0
KLKB1	3818	broad.mit.edu	37	4	187175918	187175918	+	Splice_Site	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187175918G>A	ENST00000264690.6	+	12	1676		c.e12+1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						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)		AATTACACTGGTATGTAGCAT	0.383000													8	16					0	0	0.006214	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005444	118005444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:118005444G>A	ENST00000310754.4	-	1	1292	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	369					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CAAAGATTATGAAGATTTCTC	0.378000													48	62					0	0	0.003610	0	0
ANP32E	81611	broad.mit.edu	37	1	150199019	150199019	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:150199019T>C	ENST00000314136.8	-	5	971	c.602A>G	c.(601-603)gAt>gGt	p.D201G	ANP32E_ENST00000436748.2_Missense_Mutation_p.D160G|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.D69G|ANP32E_ENST00000369119.3_Missense_Mutation_p.D153G|ANP32E_ENST00000533654.1_Missense_Mutation_p.M146V|ANP32E_ENST00000369116.4_Missense_Mutation_p.D69G	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	201	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ttcatcttcatcttcatcctc	0.458000													29	65					0	0	0.007291	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037000	44037000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:44037000C>G	ENST00000372720.3	+	2	418	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	DBNDD2_ENST00000372712.2_Intron|DBNDD2_ENST00000360981.4_Intron|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000357275.2_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L67V|DBNDD2_ENST00000372717.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|DBNDD2_ENST00000372722.3_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	63					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGGGCCCCACTGTTGGGATG	0.602000													6	15					0	0	0.001168	0	0
SFRP4	6424	broad.mit.edu	37	7	37956018	37956018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:37956018C>A	ENST00000436072.2	-	1	499	c.122G>T	c.(121-123)cGg>cTg	p.R41L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	41	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTGGGCATCCGCGTGATGTT	0.692000													5	147					0.000602214	0.00137213	0.000602	1	0
IL12RB2	3595	broad.mit.edu	37	1	67861599	67861599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:67861599G>A	ENST00000262345.1	+	16	3056	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.D720N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	806					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCCAACATAGATGACCTCCC	0.577000													62	175					0	0	0.003610	0	0
RSPH3	83861	broad.mit.edu	37	6	159401883	159401883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:159401883C>T	ENST00000367069.2	-	6	1418	c.782G>A	c.(781-783)cGt>cAt	p.R261H	RSPH3_ENST00000297262.3_Missense_Mutation_p.R307H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R403H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R165H			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	403										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGCCAGGTAACGCTGTGCAAA	0.463000													12	40					0	0	0.010729	0	0
DPYD	1806	broad.mit.edu	37	1	97770874	97770874	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:97770874T>A	ENST00000370192.3	-	18	2340	c.2240A>T	c.(2239-2241)gAt>gTt	p.D747V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	747					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGTGTGCCATCAGATTTTAA	0.478000													23	66					0	0	0.002299	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40268785	40268785	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40268785G>A	ENST00000263791.5	+	12	2032	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	EIF2AK4_ENST00000382727.2_Silent_p.A663A	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	663	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGGCCGGCGGGACCGGGGA	0.692000													8	29					0	0	0.006214	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428000													6	28					0	0	0.001984	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													6	57					0	0	0.001984	0	0
PLCB1	23236	broad.mit.edu	37	20	8608996	8608996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:8608996G>A	ENST00000378641.3	+	4	777	c.302G>A	c.(301-303)cGc>cAc	p.R101H	PLCB1_ENST00000338037.6_Missense_Mutation_p.R101H|PLCB1_ENST00000378637.2_Missense_Mutation_p.R101H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	101					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAGCAGCGCATGATCACA	0.453000													31	75					0	0	0.012213	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327768	88327768	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:88327768A>T	ENST00000325089.6	+	2	344	c.125A>T	c.(124-126)gAt>gTt	p.D42V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	42						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCATCGATTATTATGGG	0.453000													23	133					0	0	0.002299	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795518	142795518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:142795518C>A	ENST00000370498.1	-	2	913	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	54										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTAATACACTATTATTGTT	0.433000													52	88					1.19451e-25	3.0716e-25	0.003610	1	0
AUP1	550	broad.mit.edu	37	2	74755571	74755571	+	Silent	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:74755571C>A	ENST00000377526.3	-	5	879	c.570G>T	c.(568-570)ctG>ctT	p.L190L		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	256						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TCTGAACTTGCAGGGTAAGAG	0.527000													17	44					9.7654e-05	0.000225355	0.007413	1	0
DNM1P46	196968	broad.mit.edu	37	15	100340095	100340095	+	RNA	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:100340095C>A	ENST00000341853.1	-	0	831					NR_003260.1																						CTTGTCCCTACGCGAGTGCAG	0.592000													6	17					2.0095e-06	4.82279e-06	0.001984	1	0
CNTN2	6900	broad.mit.edu	37	1	205034931	205034931	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205034931G>A	ENST00000331830.4	+	14	1994	c.1710G>A	c.(1708-1710)ggG>ggA	p.G570G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	570	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCATTGGGGATCTGACCA	0.642000													9	71					0	0	0.004482	0	0
LARP6	55323	broad.mit.edu	37	15	71124564	71124564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:71124564T>A	ENST00000299213.8	-	3	1373	c.1303A>T	c.(1303-1305)Agg>Tgg	p.R435W		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	435					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCGACGCCTCCGGACCCAG	0.612000													44	80					0	0	0.007835	0	0
ZNF644	84146	broad.mit.edu	37	1	91403926	91403926	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91403926G>A	ENST00000370440.1	-	3	3202	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.A995A|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAACATGACGGGCTTCATAGC	0.428000													17	56					0	0	0.004990	0	0
C8orf76	84933	broad.mit.edu	37	8	124250097	124250097	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124250097C>T	ENST00000276704.4	-	3	349	c.298G>A	c.(298-300)Gct>Act	p.A100T	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A68T	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	100							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACACCGAGCCTGACCTTCC	0.428000													40	36					0	0	0.007835	0	0
NLGN2	57555	broad.mit.edu	37	17	7318427	7318427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7318427C>G	ENST00000302926.2	+	5	1070	c.997C>G	c.(997-999)Ccc>Gcc	p.P333A	NLGN2_ENST00000575301.1_Missense_Mutation_p.P333A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	333					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCGCCGGAAGCCCTCCCGGGA	0.652000													26	36					0	0	0.006320	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048805	102048805	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:102048805T>A	ENST00000318222.3	-	15	2641	c.2259A>T	c.(2257-2259)caA>caT	p.Q753H	PKD2L1_ENST00000353274.3_Intron|PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q678H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	753					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAAATAGCTTGTTCCTTCT	0.507000													27	31					0	0	0.010818	0	0
AP1M1	8907	broad.mit.edu	37	19	16319879	16319879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:16319879C>T	ENST00000291439.3	+	5	886	c.437C>T	c.(436-438)gCc>gTc	p.A146V	AP1M1_ENST00000541844.1_Missense_Mutation_p.A74V|AP1M1_ENST00000590756.1_Missense_Mutation_p.A74V|AP1M1_ENST00000444449.2_Missense_Mutation_p.A146V|AP1M1_ENST00000429941.2_Missense_Mutation_p.A146V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAAACAGGGGCCCCGCGGCCA	0.612000													27	49					0	0	0.003954	0	0
SPATA8	145946	broad.mit.edu	37	15	97327425	97327425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:97327425C>T	ENST00000558553.1	+	2	159	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SPATA8_ENST00000328504.3_Silent_p.C44C			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0								p.C44C(1)		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)			CATGTCCCTGCGGCTGGAGGC	0.587000													17	96					0	0	0.006122	0	0
ZNF184	7738	broad.mit.edu	37	6	27420986	27420986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:27420986C>T	ENST00000211936.6	-	6	636	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E118K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCTTCAGAAATGTCA	0.378000													43	43					0	0	0.011902	0	0
LITAF	9516	broad.mit.edu	37	16	11643462	11643462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:11643462G>A	ENST00000381810.3	-	5	569	c.518C>T	c.(517-519)gCc>gTc	p.A173V	LITAF_ENST00000570904.1_3'UTR|LITAF_ENST00000413364.2_3'UTR|LITAF_ENST00000572255.1_3'UTR|LITAF_ENST00000339430.5_3'UTR|LITAF_ENST00000571688.1_3'UTR|LITAF_ENST00000571459.1_3'UTR			Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	0					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						ACTTCCTGCGGCACCCGGCTC	0.602000													3	8					0	0	0.009096	0	0
NLRP2	55655	broad.mit.edu	37	19	55495011	55495011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:55495011A>G	ENST00000543010.1	+	6	2088	c.1945A>G	c.(1945-1947)Aac>Gac	p.N649D	NLRP2_ENST00000391721.4_Missense_Mutation_p.N625D|NLRP2_ENST00000538819.1_Missense_Mutation_p.N625D|NLRP2_ENST00000448584.2_Missense_Mutation_p.N649D|NLRP2_ENST00000427260.2_Missense_Mutation_p.N626D|NLRP2_ENST00000339757.7_Missense_Mutation_p.N627D|NLRP2_ENST00000537859.1_Missense_Mutation_p.N627D|NLRP2_ENST00000263437.6_Missense_Mutation_p.N646D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	649					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCACTGTCGAAACCTGCAGAA	0.483000													10	46					0	0	0.006214	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069390	161069390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161069390G>A	ENST00000392192.2	+	3	851	c.709G>A	c.(709-711)Gga>Aga	p.G237R	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000368011.4_Silent_p.E230E	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCAAGGAGGAACCACCTG	0.512000													293	246					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31305351	31305351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:31305351G>T	ENST00000265071.2	+	7	1335	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	CDH6_ENST00000514738.1_Missense_Mutation_p.R302L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTGAGCCACGATTTCTCTAC	0.468000													46	61					8.20599e-20	2.08039e-19	0.011902	1	0
ADRA2B	151	broad.mit.edu	37	2	96780623	96780623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:96780623G>C	ENST00000409345.3	-	1	1361	c.1266C>G	c.(1264-1266)atC>atG	p.I422M		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	425					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGATGGTGTAGATAACAGGGT	0.627000													5	30					0	0	0.001168	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912862	77912862	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:77912862C>G	ENST00000321110.1	-	2	1351	c.1056G>C	c.(1054-1056)tgG>tgC	p.W352C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	352							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTTTCATCCCAGTTCAGCT	0.478000													18	40					0	0	0.004990	0	0
DSTYK	25778	broad.mit.edu	37	1	205130494	205130494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205130494G>A	ENST00000367162.3	-	7	1870	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	DSTYK_ENST00000367161.3_Missense_Mutation_p.R614W|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	614						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTCTCTAACCGGCCTGAGTGG	0.483000													26	76					0	0	0.006320	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													5	60					0	0	0.001168	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:48500135C>A	ENST00000396577.3	+	2	434	c.219C>A	c.(217-219)ttC>ttA	p.F73L	SLC12A1_ENST00000558405.1_Missense_Mutation_p.F73L|SLC12A1_ENST00000330289.6_Missense_Mutation_p.F73L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F73L|SLC12A1_ENST00000561031.1_Missense_Mutation_p.F73L	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428000													13	58					2.61681e-11	6.54204e-11	0.002450	1	0
SETX	23064	broad.mit.edu	37	9	135221775	135221775	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:135221775T>A	ENST00000372169.2	-	4	443	c.261A>T	c.(259-261)ttA>ttT	p.L87F	SETX_ENST00000393220.1_Missense_Mutation_p.L87F|SETX_ENST00000224140.5_Missense_Mutation_p.L87F			Q7Z333	SETX_HUMAN	senataxin	87					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTACTATATATAACTCATCAT	0.338000													8	23					0	0	0.003080	0	0
FMN2	56776	broad.mit.edu	37	1	240555811	240555811	+	Splice_Site	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:240555811C>A	ENST00000319653.9	+	15	5089	c.4858_splice	c.e15-1	p.A1620_splice	FMN2_ENST00000545751.1_Splice_Site_p.A216_splice	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1620	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCACTTTCAGCCAAAATTGAC	0.328000													29	100					1.16021e-09	2.88052e-09	0.007291	1	0
MOG	4340	broad.mit.edu	37	6	29633938	29633938	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:29633938A>G	ENST00000376894.4	+	3	564	c.446A>G	c.(445-447)tAc>tGc	p.Y149C	MOG_ENST00000376898.3_Missense_Mutation_p.Y149C|MOG_ENST00000483013.1_Missense_Mutation_p.Y33C|MOG_ENST00000431798.2_Missense_Mutation_p.Y149C|MOG_ENST00000376888.2_Missense_Mutation_p.Y33C|MOG_ENST00000396704.3_Missense_Mutation_p.Y149C|MOG_ENST00000376917.3_Missense_Mutation_p.Y149C|MOG_ENST00000396701.2_Missense_Mutation_p.Y149C|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.Y149C|MOG_ENST00000490427.1_Missense_Mutation_p.Y33C|MOG_ENST00000416766.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.Y149C|MOG_ENST00000376902.3_3'UTR			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	149					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						gatcctttctactgggTGAGC	0.532000													52	57					0	0	0.003610	0	0
MFSD10	10227	broad.mit.edu	37	4	2932838	2932838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:2932838C>T	ENST00000329687.4	-	11	1736	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MFSD10_ENST00000355443.4_Missense_Mutation_p.R401H|MFSD10_ENST00000514800.1_Missense_Mutation_p.R401H|MFSD10_ENST00000507555.1_Missense_Mutation_p.A365T|MFSD10_ENST00000508221.1_Missense_Mutation_p.A355T	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	401					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACCTAGGCTGCGCAGTGTACC	0.706000													5	5					0	0	0.000602	0	0
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677000													11	40					0	0	0.010729	0	0
LOC100131347	100131347	broad.mit.edu	37	17	37213363	37213363	+	RNA	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:37213363C>G	ENST00000583447.1	+	0	92					NR_036551.1																						AGTGACAAAACCTTGCTAGTG	0.637000													5	6					0	0	0.000602	0	0
MYO10	4651	broad.mit.edu	37	5	16682098	16682098	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:16682098C>T	ENST00000513610.1	-	31	4525	c.4071G>A	c.(4069-4071)acG>acA	p.T1357T	MYO10_ENST00000505695.1_Silent_p.T696T|MYO10_ENST00000427430.2_Silent_p.T714T|MYO10_ENST00000274203.9_Silent_p.T714T|MYO10_ENST00000515803.1_Silent_p.T696T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1357					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCGGTTGGCCGTGATGATCA	0.582000													26	183					0	0	0.006320	0	0
ISLR	3671	broad.mit.edu	37	15	74467616	74467616	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:74467616C>T	ENST00000249842.3	+	2	774	c.417C>T	c.(415-417)cgC>cgT	p.R139R	ISLR_ENST00000395118.1_Silent_p.R139R|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	139					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCATCCCCCGCGACGCCTTCC	0.612000													18	63					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179427268	179427268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179427268G>T	ENST00000589042.1	-	326	83815	c.83591C>A	c.(83590-83592)cCc>cAc	p.P27864H	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26223H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25296H|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18991H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18924H|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26223	Ig-like 130.						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)			AGGTGGGAGGGGTGGTTCAGA	0.448000													12	55					3.07112e-06	7.32187e-06	0.010729	1	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													3	117					0	0	0.009096	0	0
CYB5D2	124936	broad.mit.edu	37	17	4053285	4053285	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:4053285C>T	ENST00000301391.3	+	2	851	c.351C>T	c.(349-351)caC>caT	p.H117H	CYB5D2_ENST00000575251.1_Silent_p.H5H|CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000573984.1_Silent_p.H5H	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	117	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TGACACTTCACAATTGGCTTT	0.493000													32	36					0	0	0.009535	0	0
TDRD1	56165	broad.mit.edu	37	10	115985910	115985910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:115985910G>A	ENST00000251864.2	+	22	3263	c.3110G>A	c.(3109-3111)aGa>aAa	p.R1037K	TDRD1_ENST00000369281.2_Missense_Mutation_p.R923K|TDRD1_ENST00000369280.1_Missense_Mutation_p.R1037K|TDRD1_ENST00000369282.1_Missense_Mutation_p.R1037K|TDRD1_ENST00000422662.1_Missense_Mutation_p.R641K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1037	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTCTTTGCAGAGTGCAACCA	0.438000													13	44					0	0	0.001368	0	0
FLRT3	23767	broad.mit.edu	37	20	14307545	14307545	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:14307545C>T	ENST00000378053.3	-	2	864	c.608G>A	c.(607-609)cGc>cAc	p.R203H	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R203H	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	203					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R203H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGAACCAGGCGTTTTAGACT	0.438000													33	64					0	0	0.010818	0	0
GDPD4	220032	broad.mit.edu	37	11	76928297	76928297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:76928297C>T	ENST00000376217.2	-	17	1807	c.1557G>A	c.(1555-1557)atG>atA	p.M519I	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	519					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CAGGAGGTTTCATGGCTATGT	0.458000													13	59					0	0	0.003163	0	0
ABCC5	10057	broad.mit.edu	37	3	183681281	183681281	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:183681281G>A	ENST00000334444.6	-	15	2367	c.2127C>T	c.(2125-2127)gaC>gaT	p.D709D	ABCC5_ENST00000265586.6_Silent_p.D709D	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	709	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGGGGTCGTCCAGGATGT	0.547000													21	119					0	0	0.008871	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294748	110294748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:110294748G>A	ENST00000369805.3	-	15	1535	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000361965.4_Nonsense_Mutation_p.Q435*	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	435						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCCCCAGGCTGAGGGTCATGG	0.562000													36	133					0	0	0.009718	0	0
TRMT112	51504	broad.mit.edu	37	11	64084793	64084793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:64084793G>A	ENST00000535126.1	-	1	189	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	TRMT112_ENST00000308774.2_Silent_p.F41F|TRMT112_ENST00000544844.1_Silent_p.F41F|TRMT112_ENST00000535750.1_5'UTR|TRMT112_ENST00000539854.1_Silent_p.F41F			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	0	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						TACGCGCCACGAAGTTGGGGT	0.632000													35	44					0	0	0.007835	0	0
TNFSF9	8744	broad.mit.edu	37	19	6532808	6532808	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:6532808G>A	ENST00000245817.3	+	2	317	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	93					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GCATGTTTGCGCAGCTGGTGG	0.577000													56	71					0	0	0.003610	0	0
TCFL5	10732	broad.mit.edu	37	20	61488773	61488773	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:61488773C>T	ENST00000335351.3	-	4	1304	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	TCFL5_ENST00000217162.5_Silent_p.R356R	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	404					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TTCGGTTATGCCTCTCCCTAC	0.522000													5	218					0	0	0.001168	0	0
PVRL4	81607	broad.mit.edu	37	1	161047483	161047483	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161047483C>A	ENST00000368012.3	-	3	792	c.490G>T	c.(490-492)Ggc>Tgc	p.G164C		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	164	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGGTCAGGCCCTGGCCCTCT	0.627000													12	57					6.40141e-05	0.000149643	0.010729	1	0
ZBTB43	23099	broad.mit.edu	37	9	129595076	129595076	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:129595076C>T	ENST00000373464.4	+	3	552	c.288C>T	c.(286-288)ccC>ccT	p.P96P	ZBTB43_ENST00000449886.1_Silent_p.P96P|ZBTB43_ENST00000373457.1_Silent_p.P96P	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	96	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGTAATGCCCGCTCCAGAAA	0.443000													18	44					0	0	0.006122	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18781170	18781170	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18781170G>C	ENST00000268835.2	+	6	682	c.399G>C	c.(397-399)atG>atC	p.M133I	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.M93I|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.M47I|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.M133I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	133					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGGCTTCCATGATGTGCAAAG	0.428000													21	64					0	0	0.012319	0	0
LYN	4067	broad.mit.edu	37	8	56912010	56912010	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:56912010A>G	ENST00000520220.2	+	12	1449	c.1175A>G	c.(1174-1176)gAa>gGa	p.E392G	LYN_ENST00000519728.1_Missense_Mutation_p.E413G	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	413	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ACGGCTCCAGAAGCAATCAAC	0.393000													11	88					0	0	0.008291	0	0
OR4M1	441670	broad.mit.edu	37	14	20248700	20248700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:20248700C>G	ENST00000315957.4	+	1	300	c.219C>G	c.(217-219)taC>taG	p.Y73*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTGGTACTCTTCCATTA	0.423000													111	356					0	0	0.003610	0	0
TRAC	28755	broad.mit.edu	37	14	23016536	23016536	+	RNA	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:23016536C>T	ENST00000478163.3	+	0	90																											TTTTGATTCTCAAACAAATGT	0.448000													30	168					0	0	0.006320	0	0
NRIP3	56675	broad.mit.edu	37	11	9009124	9009124	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:9009124G>A	ENST00000309166.3	-	3	506	c.393C>T	c.(391-393)ctC>ctT	p.L131L	NRIP3_ENST00000531090.1_Silent_p.L131L	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCAAAGAGATGAGATTATATA	0.453000													18	82					0	0	0.008871	0	0
DNA2	1763	broad.mit.edu	37	10	70225525	70225525	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:70225525G>A	ENST00000399180.2	-	4	743	c.744C>T	c.(742-744)ctC>ctT	p.L248L	DNA2_ENST00000358410.3_Silent_p.L162L|DNA2_ENST00000399179.2_Silent_p.L162L			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	162					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACACCTCATGGAGAACCGTAC	0.358000													6	25					0	0	0.001984	0	0
F11	2160	broad.mit.edu	37	4	187201215	187201215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187201215A>T	ENST00000264692.4	+	8	982	c.649A>T	c.(649-651)Att>Ttt	p.I217F	F11_ENST00000403665.2_Missense_Mutation_p.I269F			P03951	FA11_HUMAN	coagulation factor XI	269	Apple 3.				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)	CAGTACACGCATTAAAAAGAG	0.398000													14	41					0	0	0.002450	0	0
P2RY2	5029	broad.mit.edu	37	11	72946234	72946234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:72946234A>G	ENST00000311131.2	+	3	1497	c.1030A>G	c.(1030-1032)Act>Gct	p.T344A	P2RY2_ENST00000393596.2_Missense_Mutation_p.T344A|P2RY2_ENST00000393597.2_Missense_Mutation_p.T344A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATCCGACAGAACTGACATGCA	0.632000													18	153					0	0	0.004990	0	0
ATAD2	29028	broad.mit.edu	37	8	124348766	124348766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124348766C>G	ENST00000287394.5	-	22	3165	c.3058G>C	c.(3058-3060)Gat>Cat	p.D1020H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328000													16	158					0	0	0.004990	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027520	2027520	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:2027520C>A	ENST00000382722.5	-	1	482	c.120G>T	c.(118-120)atG>atT	p.M40I	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.M40I|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.M40I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.M40I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	40						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCCACGGGCATTGGCTGGA	0.657000													8	14					5.18039e-06	1.22693e-05	0.003080	1	0
ASPM	259266	broad.mit.edu	37	1	197070918	197070918	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:197070918T>G	ENST00000367409.4	-	18	7719	c.7463A>C	c.(7462-7464)cAg>cCg	p.Q2488P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2488	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAAGTAGCCTGAATGAGAAC	0.363000													15	112					0	0	0.003163	0	0
KCND2	3751	broad.mit.edu	37	7	120386013	120386013	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:120386013T>C	ENST00000331113.4	+	5	2612	c.1647T>C	c.(1645-1647)caT>caC	p.H549H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	549					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGGAAGCCATCAAGGTAGTA	0.448000													15	104					0	0	0.003163	0	0
FEZF1	389549	broad.mit.edu	37	7	121944307	121944307	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:121944307T>C	ENST00000442488.2	-	1	252	c.185A>G	c.(184-186)aAg>aGg	p.K62R	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.K62R|FEZF1_ENST00000427185.2_Missense_Mutation_p.K62R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	62					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAGAGAGTGCTTGGGTTCCCC	0.627000													23	107					0	0	0.002780	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45679706	45679706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:45679706T>A	ENST00000310806.4	-	14	3487	c.3029A>T	c.(3028-3030)gAt>gTt	p.D1010V		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1010	Poly-Asp.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATCATCATCATCTTCACTGTC	0.363000													29	62					0	0	0.008361	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257536	114257536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:114257536C>G	ENST00000306507.5	+	1	876	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	235	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCCAGGCCCTCTGCTTGGGGC	0.726000													28	113					0	0	0.003755	0	0
AUTS2	26053	broad.mit.edu	37	7	70255917	70255917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:70255917C>G	ENST00000342771.4	+	19	4036	c.3715C>G	c.(3715-3717)Cct>Gct	p.P1239A	AUTS2_ENST00000406775.2_Missense_Mutation_p.P1215A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1239										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGGACGACTCCTCTGTCCGC	0.627000													13	36					0	0	0.001368	0	0
WWOX	51741	broad.mit.edu	37	16	78198111	78198111	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:78198111T>G	ENST00000566780.1	+	5	807	c.441T>G	c.(439-441)caT>caG	p.H147Q	WWOX_ENST00000406884.2_Missense_Mutation_p.H147Q|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.H147Q|WWOX_ENST00000355860.3_Missense_Mutation_p.H147Q|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	147	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTGCCCTCCATGGTGCACATG	0.443000													15	34					0	0	0.006122	0	0
PLCB2	5330	broad.mit.edu	37	15	40581116	40581116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40581116G>A	ENST00000260402.3	-	32	3607	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	PLCB2_ENST00000557821.1_Nonsense_Mutation_p.Q1116*|PLCB2_ENST00000456256.2_Nonsense_Mutation_p.Q1105*	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1120					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGA	0.632000													5	58					0	0	0.000602	0	0
TOX3	27324	broad.mit.edu	37	16	52473856	52473856	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:52473856G>C	ENST00000219746.9	-	7	1296	c.1012C>G	c.(1012-1014)Cag>Gag	p.Q338E	TOX3_ENST00000407228.3_Missense_Mutation_p.Q333E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	338					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGGATGGTCTGGGCTTCTGCT	0.438000													13	56					0	0	0.001368	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	24					0	0	0.004672	0	0
ZNF644	84146	broad.mit.edu	37	1	91405606	91405606	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91405606C>T	ENST00000370440.1	-	3	1522	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.G435G|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTGACTATTCCCATCTAAAT	0.413000													20	56					0	0	0.008871	0	0
OR10J1	26476	broad.mit.edu	37	1	159410091	159410091	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:159410091T>C	ENST00000423932.3	+	1	580	c.543T>C	c.(541-543)gcT>gcC	p.A181A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	181					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCTTCTGTGCTAGAAAGGTGC	0.493000													64	154					0	0	0.003610	0	0
GINM1	116254	broad.mit.edu	37	6	149893688	149893688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:149893688G>C	ENST00000367419.5	+	3	347	c.226G>C	c.(226-228)Gac>Cac	p.D76H		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		GTATGTAAATGACTTACCTGT	0.308000													15	39					0	0	0.003163	0	0
EP300	2033	broad.mit.edu	37	22	41489079	41489079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:41489079C>A	ENST00000263253.7	+	1	1290	c.71C>A	c.(70-72)tCg>tAg	p.S24*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	24	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGGCCCTCTCGGCGTCCGCC	0.542000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	105					1.67942e-08	4.11285e-08	0.006122	1	0
FBXO10	26267	broad.mit.edu	37	9	37521758	37521758	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:37521758G>A	ENST00000432825.2	-	8	2056	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.L195L|FBXO10_ENST00000543968.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	670						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTCCATACAGGCCATTGTAG	0.572000													13	18					0	0	0.003163	0	0
OR51A4	401666	broad.mit.edu	37	11	4967807	4967807	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:4967807T>C	ENST00000380373.2	-	1	549	c.524A>G	c.(523-525)cAa>cGa	p.Q175R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		ATGGGATAATTGGTTTTTCTT	0.413000													48	73					0	0	0.003610	0	0
SHANK3	85358	broad.mit.edu	37	22	51143288	51143288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:51143288G>A	ENST00000414786.2	+	15	2079	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SHANK3_ENST00000445220.2_Missense_Mutation_p.E633K|SHANK3_ENST00000262795.3_Missense_Mutation_p.E648K			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	648										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTTCCTCATCGAGGTGAGGTC	0.692000													9	47					0	0	0.004482	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140587	178140587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:178140587G>C	ENST00000335815.2	-	5	489	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	98					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTGTGTTTGCGTTGACTTT	0.368000													37	47					0	0	0.006230	0	0
SPRED2	200734	broad.mit.edu	37	2	65541019	65541019	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:65541019C>T	ENST00000356388.4	-	6	1062	c.873G>A	c.(871-873)caG>caA	p.Q291Q	SPRED2_ENST00000443619.2_Silent_p.Q288Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	291					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCCGGGAGGGCTGCGTCTTGA	0.662000													21	96					0	0	0.008871	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117501264	117501264	+	Splice_Site	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:117501264C>T	ENST00000160373.3	-	2	279	c.189_splice	c.e2+1	p.R63_splice		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	63										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGTCCTTACCCGCAGGGCCTC	0.483000													7	25					0	0	0.004482	0	0
CDS2	8760	broad.mit.edu	37	20	5169722	5169722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:5169722C>T	ENST00000460006.1	+	11	1298	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	CDS2_ENST00000379062.4_Missense_Mutation_p.R211W|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.R101W	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	331					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAAAACGGTCCGGATGTACCC	0.458000													29	109					0	0	0.006320	0	0
COL9A2	1298	broad.mit.edu	37	1	40771397	40771397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:40771397G>A	ENST00000372748.3	-	21	1193	c.1097C>T	c.(1096-1098)cCt>cTt	p.P366L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	366	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCTTTCCCAGGGGGACCAGA	0.612000													11	43					0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507000													177	412					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179638736	179638736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179638736C>T	ENST00000589042.1	-	31	7383	c.7159G>A	c.(7159-7161)Gtc>Atc	p.V2387I	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V2387I|TTN_ENST00000591111.1_Missense_Mutation_p.V2387I|TTN_ENST00000342992.6_Missense_Mutation_p.V2387I|TTN_ENST00000342175.6_Missense_Mutation_p.V2341I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V2341I|TTN_ENST00000359218.5_Missense_Mutation_p.V2341I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2110	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V2341F(2)|p.V2387F(2)		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)			TTCATCCAGACGCCTTCCACA	0.463000													21	107					0	0	0.012319	0	0
FIZ1	84922	broad.mit.edu	37	19	56104200	56104200	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:56104200C>T	ENST00000221665.3	-	3	1196	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGGCGGCCAGCGCCGCGTACA	0.766000													4	7					0	0	0.009096	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539638	120539638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:120539638C>A	ENST00000256646.2	-	4	952	c.733G>T	c.(733-735)Gag>Tag	p.E245*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.E206*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	245	EGF-like 6.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTTGCACTCAAAAGTGAAG	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	31					0.000157383	0.000360879	0.003080	1	0
AEBP1	165	broad.mit.edu	37	7	44153489	44153489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44153489C>T	ENST00000223357.3	+	21	3411	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	AEBP1_ENST00000450684.2_Missense_Mutation_p.R611W	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1036	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (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						GATGCGGCTGCGGCGCCTCAA	0.692000													12	38					0	0	0.010729	0	0
ASTN2	23245	broad.mit.edu	37	9	120176823	120176823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:120176823C>T	ENST00000313400.4	-	1	494	c.394G>A	c.(394-396)Gcg>Acg	p.A132T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A132T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A132T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	132						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCTGCACCGCGATGCGCCCC	0.726000													13	35					0	0	0.003163	0	0
PVRL4	81607	broad.mit.edu	37	1	161047483	161047483	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:161047483C>A	ENST00000368012.3	-	3	792	c.490G>T	c.(490-492)Ggc>Tgc	p.G164C		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	164	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGGTCAGGCCCTGGCCCTCT	0.627000													12	57					6.40141e-05	0.000135283	0.010729	1	0
CHRNG	1146	broad.mit.edu	37	2	233406237	233406237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:233406237C>A	ENST00000389494.3	+	5	525	c.504C>A	c.(502-504)ttC>ttA	p.F168L	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	168					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCTTATCTTCCAGTGAGGCC	0.582000													35	102					6.05902e-23	1.41229e-22	0.003755	1	0
AP1M1	8907	broad.mit.edu	37	19	16319879	16319879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:16319879C>T	ENST00000291439.3	+	5	886	c.437C>T	c.(436-438)gCc>gTc	p.A146V	AP1M1_ENST00000429941.2_Missense_Mutation_p.A146V|AP1M1_ENST00000590756.1_Missense_Mutation_p.A74V|AP1M1_ENST00000541844.1_Missense_Mutation_p.A74V|AP1M1_ENST00000444449.2_Missense_Mutation_p.A146V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAAACAGGGGCCCCGCGGCCA	0.612000													27	49					0	0	0.003954	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595076	129595076	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr9:129595076C>T	ENST00000373464.4	+	3	552	c.288C>T	c.(286-288)ccC>ccT	p.P96P	ZBTB43_ENST00000373457.1_Silent_p.P96P|ZBTB43_ENST00000449886.1_Silent_p.P96P	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	96	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGTAATGCCCGCTCCAGAAA	0.443000													18	44					0	0	0.006122	0	0
SPATA8	145946	broad.mit.edu	37	15	97327425	97327425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:97327425C>T	ENST00000558553.1	+	2	159	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SPATA8_ENST00000328504.3_Silent_p.C44C			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0								p.C44C(1)		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)			CATGTCCCTGCGGCTGGAGGC	0.587000													17	96					0	0	0.006122	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781799	128781799	+	Missense_Mutation	SNP	C	C	T	rs143790141		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:128781799C>T	ENST00000529694.1	+	2	1007	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	KCNJ5_ENST00000338350.4_Missense_Mutation_p.R211W|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R211W	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	211					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATCTCCATGCGGGACGAGAA	0.587000													18	65					0	0	0.006122	0	0
ZNF184	7738	broad.mit.edu	37	6	27420986	27420986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr6:27420986C>T	ENST00000211936.6	-	6	636	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E118K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCTTCAGAAATGTCA	0.378000													43	43					0	0	0.011902	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													4	83					0	0	0.000602	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678327	65678327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:65678327C>A	ENST00000352385.2	-	18	3231	c.3022G>T	c.(3022-3024)Ggc>Tgc	p.G1008C		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1008						integral to membrane|plasma membrane		p.G1008C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGGGGGGCCAAGCCGAGCT	0.662000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					2.17888e-05	4.66692e-05	0.006214	1	0
OR4M1	441670	broad.mit.edu	37	14	20248700	20248700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr14:20248700C>G	ENST00000315957.4	+	1	300	c.219C>G	c.(217-219)taC>taG	p.Y73*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTGGTACTCTTCCATTA	0.423000													111	356					0	0	0.014410	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327768	88327768	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr13:88327768A>T	ENST00000325089.6	+	2	344	c.125A>T	c.(124-126)gAt>gTt	p.D42V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	42						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCATCGATTATTATGGG	0.453000													23	133					0	0	0.014323	0	0
LRRK2	120892	broad.mit.edu	37	12	40646775	40646775	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr12:40646775C>T	ENST00000298910.7	+	11	1303	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	LRRK2_ENST00000343742.2_Silent_p.F415F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	415					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAAGTTTTCCAGGCATCTG	0.363000													13	28					0	0	0.001855	0	0
APLP2	334	broad.mit.edu	37	11	129979472	129979472	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:129979472A>T	ENST00000543137.1	+	0	329				APLP2_ENST00000528499.1_Missense_Mutation_p.E85V|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Missense_Mutation_p.E85V|APLP2_ENST00000278756.7_Missense_Mutation_p.E95V|APLP2_ENST00000338167.5_Missense_Mutation_p.E85V|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000263574.5_Missense_Mutation_p.E85V	NM_001243299.1	NP_001230228.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2						G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAAACAAAAGAAGAAGTTCTT	0.403000													14	21					0	0	0.003163	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069390	161069390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:161069390G>A	ENST00000392192.2	+	3	851	c.709G>A	c.(709-711)Gga>Aga	p.G237R	KLHDC9_ENST00000368011.4_Silent_p.E230E|KLHDC9_ENST00000490724.2_3'UTR	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCAAGGAGGAACCACCTG	0.512000													293	246					0	0	0.014410	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936942	119936942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr8:119936942C>T	ENST00000297350.4	-	5	1255	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	293	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGAAGCTGCTCGAAGGTGAGG	0.448000													16	111					0	0	0.004990	0	0
GINM1	116254	broad.mit.edu	37	6	149893688	149893688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr6:149893688G>C	ENST00000367419.5	+	3	347	c.226G>C	c.(226-228)Gac>Cac	p.D76H		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		GTATGTAAATGACTTACCTGT	0.308000													15	39					0	0	0.003163	0	0
CDH6	1004	broad.mit.edu	37	5	31305351	31305351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr5:31305351G>T	ENST00000265071.2	+	7	1335	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	CDH6_ENST00000514738.1_Missense_Mutation_p.R302L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTGAGCCACGATTTCTCTAC	0.468000													46	61					8.20599e-20	1.89876e-19	0.011902	1	0
FLRT3	23767	broad.mit.edu	37	20	14307545	14307545	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:14307545C>T	ENST00000378053.3	-	2	864	c.608G>A	c.(607-609)cGc>cAc	p.R203H	FLRT3_ENST00000341420.4_Missense_Mutation_p.R203H|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	203					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R203H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGAACCAGGCGTTTTAGACT	0.438000													33	64					0	0	0.010818	0	0
NRIP3	56675	broad.mit.edu	37	11	9009124	9009124	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:9009124G>A	ENST00000309166.3	-	3	506	c.393C>T	c.(391-393)ctC>ctT	p.L131L	NRIP3_ENST00000531090.1_Silent_p.L131L	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCAAAGAGATGAGATTATATA	0.453000													18	82					0	0	0.008871	0	0
FBXO10	26267	broad.mit.edu	37	9	37521758	37521758	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr9:37521758G>A	ENST00000432825.2	-	8	2056	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L	FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.L195L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	670						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTCCATACAGGCCATTGTAG	0.572000													13	18					0	0	0.003163	0	0
DNA2	1763	broad.mit.edu	37	10	70225525	70225525	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr10:70225525G>A	ENST00000399180.2	-	4	743	c.744C>T	c.(742-744)ctC>ctT	p.L248L	DNA2_ENST00000399179.2_Silent_p.L162L|DNA2_ENST00000358410.3_Silent_p.L162L			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	162					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACACCTCATGGAGAACCGTAC	0.358000													6	25					0	0	0.001984	0	0
TRIB3	57761	broad.mit.edu	37	20	368670	368670	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:368670C>T	ENST00000217233.3	+	2	569	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	TRIB3_ENST00000485293.1_3'UTR|TRIB3_ENST00000422053.2_Silent_p.L33L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	6					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AGCCACCCCTCTGGCTGCTCC	0.572000													19	76					0	0	0.007413	0	0
ADRA2B	151	broad.mit.edu	37	2	96780623	96780623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:96780623G>C	ENST00000409345.3	-	1	1361	c.1266C>G	c.(1264-1266)atC>atG	p.I422M		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	425					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGATGGTGTAGATAACAGGGT	0.627000													5	30					0	0	0.001168	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													4	66					0	0	0.009096	0	0
F11	2160	broad.mit.edu	37	4	187201215	187201215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr4:187201215A>T	ENST00000264692.4	+	8	982	c.649A>T	c.(649-651)Att>Ttt	p.I217F	F11_ENST00000403665.2_Missense_Mutation_p.I269F			P03951	FA11_HUMAN	coagulation factor XI	269	Apple 3.				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)	CAGTACACGCATTAAAAAGAG	0.398000													14	41					0	0	0.002450	0	0
P2RY2	5029	broad.mit.edu	37	11	72946234	72946234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:72946234A>G	ENST00000311131.2	+	3	1497	c.1030A>G	c.(1030-1032)Act>Gct	p.T344A	P2RY2_ENST00000393596.2_Missense_Mutation_p.T344A|P2RY2_ENST00000393597.2_Missense_Mutation_p.T344A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATCCGACAGAACTGACATGCA	0.632000													18	153					0	0	0.004990	0	0
KLKB1	3818	broad.mit.edu	37	4	187175918	187175918	+	Splice_Site	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr4:187175918G>A	ENST00000264690.6	+	12	1676		c.e12+1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						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)		AATTACACTGGTATGTAGCAT	0.383000													8	16					0	0	0.006214	0	0
DSTYK	25778	broad.mit.edu	37	1	205130494	205130494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:205130494G>A	ENST00000367162.3	-	7	1870	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.R614W	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	614						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTCTCTAACCGGCCTGAGTGG	0.483000													26	76					0	0	0.006320	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005444	118005444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr4:118005444G>A	ENST00000310754.4	-	1	1292	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	369					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CAAAGATTATGAAGATTTCTC	0.378000													48	62					0	0	0.014410	0	0
TRMT112	51504	broad.mit.edu	37	11	64084793	64084793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:64084793G>A	ENST00000535126.1	-	1	189	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	TRMT112_ENST00000544844.1_Silent_p.F41F|TRMT112_ENST00000539854.1_Silent_p.F41F|TRMT112_ENST00000535750.1_5'UTR|TRMT112_ENST00000308774.2_Silent_p.F41F			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	0	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						TACGCGCCACGAAGTTGGGGT	0.632000													35	44					0	0	0.007835	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													5	60					0	0	0.001168	0	0
NLRP2	55655	broad.mit.edu	37	19	55495011	55495011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:55495011A>G	ENST00000543010.1	+	6	2088	c.1945A>G	c.(1945-1947)Aac>Gac	p.N649D	NLRP2_ENST00000339757.7_Missense_Mutation_p.N627D|NLRP2_ENST00000391721.4_Missense_Mutation_p.N625D|NLRP2_ENST00000263437.6_Missense_Mutation_p.N646D|NLRP2_ENST00000538819.1_Missense_Mutation_p.N625D|NLRP2_ENST00000537859.1_Missense_Mutation_p.N627D|NLRP2_ENST00000427260.2_Missense_Mutation_p.N626D|NLRP2_ENST00000448584.2_Missense_Mutation_p.N649D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	649					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCACTGTCGAAACCTGCAGAA	0.483000													10	46					0	0	0.006214	0	0
ANP32E	81611	broad.mit.edu	37	1	150199019	150199019	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:150199019T>C	ENST00000314136.8	-	5	971	c.602A>G	c.(601-603)gAt>gGt	p.D201G	ANP32E_ENST00000533654.1_Missense_Mutation_p.M146V|ANP32E_ENST00000436748.2_Missense_Mutation_p.D160G|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.D69G|ANP32E_ENST00000369116.4_Missense_Mutation_p.D69G|ANP32E_ENST00000369119.3_Missense_Mutation_p.D153G	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	201	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ttcatcttcatcttcatcctc	0.458000													29	65					0	0	0.007291	0	0
LYN	4067	broad.mit.edu	37	8	56912010	56912010	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr8:56912010A>G	ENST00000520220.2	+	12	1449	c.1175A>G	c.(1174-1176)gAa>gGa	p.E392G	LYN_ENST00000519728.1_Missense_Mutation_p.E413G	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	413	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ACGGCTCCAGAAGCAATCAAC	0.393000													11	88					0	0	0.008291	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44797689	44797689	+	Silent	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:44797689C>G	ENST00000309315.4	+	6	918	c.795C>G	c.(793-795)gtC>gtG	p.V265V	ZMIZ2_ENST00000441627.1_Silent_p.V265V|ZMIZ2_ENST00000433667.1_Silent_p.V233V|ZMIZ2_ENST00000413916.1_Silent_p.V233V|ZMIZ2_ENST00000265346.7_Silent_p.V265V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	265	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGGGGGTCAAGAGAACCT	0.607000													14	72					0	0	0.003163	0	0
APAF1	317	broad.mit.edu	37	12	99060002	99060002	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr12:99060002A>T	ENST00000357310.1	+	9	1806	c.1229A>T	c.(1228-1230)gAa>gTa	p.E410V	APAF1_ENST00000550527.1_Missense_Mutation_p.E399V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.E410V|APAF1_ENST00000359972.2_Missense_Mutation_p.E399V|APAF1_ENST00000339433.3_Missense_Mutation_p.E410V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.E410V|APAF1_ENST00000549007.1_Missense_Mutation_p.E410V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	410	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAAACTGAAGAAGTTGAAGAC	0.348000													19	68					0	0	0.007413	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027520	2027520	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr12:2027520C>A	ENST00000382722.5	-	1	482	c.120G>T	c.(118-120)atG>atT	p.M40I	RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.M40I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.M40I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.M40I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	40						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCCACGGGCATTGGCTGGA	0.657000													8	14					5.18039e-06	1.11713e-05	0.003080	1	0
ASPM	259266	broad.mit.edu	37	1	197070918	197070918	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:197070918T>G	ENST00000367409.4	-	18	7719	c.7463A>C	c.(7462-7464)cAg>cCg	p.Q2488P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2488	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAAGTAGCCTGAATGAGAAC	0.363000													15	112					0	0	0.003163	0	0
LIN28A	79727	broad.mit.edu	37	1	26752814	26752814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:26752814G>C	ENST00000326279.6	+	4	609	c.495G>C	c.(493-495)caG>caC	p.Q165H	LIN28A_ENST00000254231.4_Missense_Mutation_p.Q165H	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	165					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTTCTGCCAGAGCATCAGCC	0.532000													9	54					0	0	0.004482	0	0
NCAN	1463	broad.mit.edu	37	19	19330033	19330033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:19330033G>A	ENST00000252575.5	+	3	426	c.383G>A	c.(382-384)gGg>gAg	p.G128E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	128	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTACTTCTGGGGCCACTGAGG	0.642000													9	12					0	0	0.008291	0	0
FLT1	2321	broad.mit.edu	37	13	28959102	28959102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr13:28959102G>T	ENST00000282397.4	-	14	2287	c.2036C>A	c.(2035-2037)aCt>aAt	p.T679N	FLT1_ENST00000541932.1_Missense_Mutation_p.T679N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	679	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACAGTCTAAAGTGGTGGAACT	0.448000													21	82					2.27731e-05	4.84501e-05	0.012319	1	0
TNFSF9	8744	broad.mit.edu	37	19	6532808	6532808	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:6532808G>A	ENST00000245817.3	+	2	317	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	93					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GCATGTTTGCGCAGCTGGTGG	0.577000													56	71					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240555811	240555811	+	Splice_Site	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:240555811C>A	ENST00000319653.9	+	15	5089	c.4858_splice	c.e15-1	p.A1620_splice	FMN2_ENST00000545751.1_Splice_Site_p.A216_splice	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1620	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCACTTTCAGCCAAAATTGAC	0.328000													29	100					1.16021e-09	2.62704e-09	0.007291	1	0
UVSSA	57654	broad.mit.edu	37	4	1379683	1379683	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr4:1379683C>T	ENST00000389851.4	+	14	2511	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	UVSSA_ENST00000507422.1_3'UTR|UVSSA_ENST00000511563.1_Silent_p.A239A|UVSSA_ENST00000512728.1_Silent_p.A239A|UVSSA_ENST00000511216.1_Silent_p.A688A|UVSSA_ENST00000507531.1_Silent_p.A688A	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	688																	TAGTGGCAGCCATGAACCGGA	0.592000													45	42					0	0	0.014410	0	0
FEZF1	389549	broad.mit.edu	37	7	121944307	121944307	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:121944307T>C	ENST00000442488.2	-	1	252	c.185A>G	c.(184-186)aAg>aGg	p.K62R	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K62R|FEZF1_ENST00000331178.4_Missense_Mutation_p.K62R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	62					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAGAGAGTGCTTGGGTTCCCC	0.627000													23	107					0	0	0.002780	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797434	34797434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:34797434G>A	ENST00000338074.2	+	15	1854	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	EPB41L1_ENST00000202028.5_Missense_Mutation_p.E491K|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E565K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E456K|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E491K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	565					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGAGGGCTCCGAGGAGAAAGT	0.552000													6	32					0	0	0.003080	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45679706	45679706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr14:45679706T>A	ENST00000310806.4	-	14	3487	c.3029A>T	c.(3028-3030)gAt>gTt	p.D1010V		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1010	Poly-Asp.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATCATCATCATCTTCACTGTC	0.363000													29	62					0	0	0.008361	0	0
SNPH	9751	broad.mit.edu	37	20	1285638	1285638	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:1285638T>A	ENST00000381867.1	+	7	1199	c.557T>A	c.(556-558)aTc>aAc	p.I186N	SNPH_ENST00000381873.3_Missense_Mutation_p.I142N			O15079	SNPH_HUMAN	syntaphilin	142					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGAAAGGAGATCAAGCAGCTC	0.562000													34	94					0	0	0.013726	0	0
CAD	790	broad.mit.edu	37	2	27457394	27457394	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:27457394G>A	ENST00000264705.4	+	23	3789	c.3627G>A	c.(3625-3627)caG>caA	p.Q1209Q	CAD_ENST00000403525.1_Silent_p.Q1146Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1209	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGATGACCAGCTGAAAGTTA	0.547000													35	158					0	0	0.005524	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037000	44037000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:44037000C>G	ENST00000372720.3	+	2	418	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	DBNDD2_ENST00000360981.4_Intron|DBNDD2_ENST00000372722.3_Intron|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372717.1_Intron|DBNDD2_ENST00000357275.2_Intron|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L67V|DBNDD2_ENST00000372712.2_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	63					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGGGCCCCACTGTTGGGATG	0.602000													6	15					0	0	0.001168	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:48500135C>A	ENST00000396577.3	+	2	434	c.219C>A	c.(217-219)ttC>ttA	p.F73L	SLC12A1_ENST00000558405.1_Missense_Mutation_p.F73L|SLC12A1_ENST00000330289.6_Missense_Mutation_p.F73L|SLC12A1_ENST00000561031.1_Missense_Mutation_p.F73L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F73L	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428000													13	58					2.61681e-11	5.96784e-11	0.002450	1	0
SFRP4	6424	broad.mit.edu	37	7	37956018	37956018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:37956018C>A	ENST00000436072.2	-	1	499	c.122G>T	c.(121-123)cGg>cTg	p.R41L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	41	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTGGGCATCCGCGTGATGTT	0.692000													5	147					0.000602214	0.00124773	0.000602	1	0
TUBA4A	7277	broad.mit.edu	37	2	220116737	220116737	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:220116737C>T	ENST00000392088.2	-	2	729	c.174G>A	c.(172-174)acG>acA	p.T58T	TUBA4A_ENST00000248437.4_Silent_p.T73T|TUBA4A_ENST00000498660.1_Intron	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	73					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCAATGACCGTAGGCTCCA	0.527000													9	29					0	0	0.004482	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861599	67861599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:67861599G>A	ENST00000262345.1	+	16	3056	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.D720N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	806					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCCAACATAGATGACCTCCC	0.577000													62	175					0	0	0.014410	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257536	114257536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:114257536C>G	ENST00000306507.5	+	1	876	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	235	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCCAGGCCCTCTGCTTGGGGC	0.726000													28	113					0	0	0.003755	0	0
SF3B1	23451	broad.mit.edu	37	2	198272767	198272767	+	Silent	SNP	T	T	C	rs71422649	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:198272767T>C	ENST00000335508.5	-	9	1285	c.1194A>G	c.(1192-1194)ccA>ccG	p.P398P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	398	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATCAGAAAGTGGGCGATTTC	0.358000			Mis		myelodysplastic syndrome								12	32					0	0	0.001855	0	0
RSPH3	83861	broad.mit.edu	37	6	159401883	159401883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr6:159401883C>T	ENST00000367069.2	-	6	1418	c.782G>A	c.(781-783)cGt>cAt	p.R261H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R165H|RSPH3_ENST00000297262.3_Missense_Mutation_p.R307H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R403H			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	403										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGCCAGGTAACGCTGTGCAAA	0.463000													12	40					0	0	0.010729	0	0
CDS2	8760	broad.mit.edu	37	20	5169722	5169722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:5169722C>T	ENST00000460006.1	+	11	1298	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R211W|CDS2_ENST00000535100.1_Missense_Mutation_p.R101W	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	331					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAAAACGGTCCGGATGTACCC	0.458000													29	109					0	0	0.006320	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191487	72191487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr14:72191487G>A	ENST00000555818.1	+	17	4960	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1517K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1517K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E992K|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1538					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)		GTCCACCATTGAAGAAGATCT	0.478000													13	57					0	0	0.013537	0	0
PRSS1	5644	broad.mit.edu	37	7	142459768	142459768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:142459768C>G	ENST00000486171.1	+	4	403	c.386C>G	c.(385-387)tCa>tGa	p.S129*	PRSS1_ENST00000311737.7_Nonsense_Mutation_p.S115*			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	115	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AAGCTCTCCTCACGTGCAGTA	0.562000													28	149					0	0	0.007291	0	0
DPYD	1806	broad.mit.edu	37	1	97770874	97770874	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:97770874T>A	ENST00000370192.3	-	18	2340	c.2240A>T	c.(2239-2241)gAt>gTt	p.D747V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	747					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGTGTGCCATCAGATTTTAA	0.478000													23	66					0	0	0.014323	0	0
AUTS2	26053	broad.mit.edu	37	7	70255917	70255917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:70255917C>G	ENST00000342771.4	+	19	4036	c.3715C>G	c.(3715-3717)Cct>Gct	p.P1239A	AUTS2_ENST00000406775.2_Missense_Mutation_p.P1215A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1239										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGGACGACTCCTCTGTCCGC	0.627000													13	36					0	0	0.013537	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40268785	40268785	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:40268785G>A	ENST00000263791.5	+	12	2032	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	EIF2AK4_ENST00000382727.2_Silent_p.A663A	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	663	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGGCCGGCGGGACCGGGGA	0.692000													8	29					0	0	0.006214	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428000													6	28					0	0	0.001984	0	0
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677000													11	40					0	0	0.010729	0	0
WNT3A	89780	broad.mit.edu	37	1	228210572	228210572	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:228210572C>T	ENST00000284523.1	+	2	354	c.276C>T	c.(274-276)caC>caT	p.H92H	WNT3A_ENST00000366753.2_Silent_p.H92H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	92					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCACCGTCCACGACAGCCTGG	0.652000													14	77					0	0	0.001855	0	0
LARP6	55323	broad.mit.edu	37	15	71124564	71124564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:71124564T>A	ENST00000299213.8	-	3	1373	c.1303A>T	c.(1303-1305)Agg>Tgg	p.R435W		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	435					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCGACGCCTCCGGACCCAG	0.612000													44	80					0	0	0.007835	0	0
MC1R	4157	broad.mit.edu	37	16	89986186	89986186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:89986186G>A	ENST00000555427.1	+	3	2823	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	MC1R_ENST00000555147.1_Missense_Mutation_p.V174I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V174I					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCCAGTGTCGTCTTCAGCAC	0.632000									Melanoma, Familial Clustering of				12	58					0	0	0.013537	0	0
PLCB1	23236	broad.mit.edu	37	20	8608996	8608996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:8608996G>A	ENST00000378641.3	+	4	777	c.302G>A	c.(301-303)cGc>cAc	p.R101H	PLCB1_ENST00000378637.2_Missense_Mutation_p.R101H|PLCB1_ENST00000338037.6_Missense_Mutation_p.R101H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	101					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAGCAGCGCATGATCACA	0.453000													31	75					0	0	0.012213	0	0
ERN2	10595	broad.mit.edu	37	16	23706682	23706682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:23706682C>T	ENST00000256797.4	-	15	1951	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	ERN2_ENST00000457008.2_Missense_Mutation_p.V495I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	547	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCGCTTGACAGCCACTGCC	0.612000													4	15					0	0	0.009096	0	0
LOC100131347	100131347	broad.mit.edu	37	17	37213363	37213363	+	RNA	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:37213363C>G	ENST00000583447.1	+	0	92					NR_036551.1																						AGTGACAAAACCTTGCTAGTG	0.637000													5	6					0	0	0.000602	0	0
ZNF100	163227	broad.mit.edu	37	19	21910770	21910770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:21910770T>A	ENST00000358296.6	-	5	542	c.344A>T	c.(343-345)cAa>cTa	p.Q115L	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q51L	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CCAAAGGTCTTGGGGAAAATG	0.303000													7	29					0	0	0.001984	0	0
ISLR	3671	broad.mit.edu	37	15	74467616	74467616	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:74467616C>T	ENST00000249842.3	+	2	774	c.417C>T	c.(415-417)cgC>cgT	p.R139R	ISLR_ENST00000395118.1_Silent_p.R139R|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	139					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCATCCCCCGCGACGCCTTCC	0.612000													18	63					0	0	0.007413	0	0
NLGN2	57555	broad.mit.edu	37	17	7318427	7318427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:7318427C>G	ENST00000302926.2	+	5	1070	c.997C>G	c.(997-999)Ccc>Gcc	p.P333A	NLGN2_ENST00000575301.1_Missense_Mutation_p.P333A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	333					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCGCCGGAAGCCCTCCCGGGA	0.652000													26	36					0	0	0.006320	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795518	142795518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chrX:142795518C>A	ENST00000370498.1	-	2	913	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	54										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTAATACACTATTATTGTT	0.433000													52	88					1.19451e-25	2.80489e-25	0.014410	1	0
ATAD2	29028	broad.mit.edu	37	8	124348766	124348766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr8:124348766C>G	ENST00000287394.5	-	22	3165	c.3058G>C	c.(3058-3060)Gat>Cat	p.D1020H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328000													16	158					0	0	0.004990	0	0
TCFL5	10732	broad.mit.edu	37	20	61488773	61488773	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr20:61488773C>T	ENST00000335351.3	-	4	1304	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	TCFL5_ENST00000217162.5_Silent_p.R356R	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	404					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TTCGGTTATGCCTCTCCCTAC	0.522000													5	218					0	0	0.001168	0	0
TOX3	27324	broad.mit.edu	37	16	52473856	52473856	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:52473856G>C	ENST00000219746.9	-	7	1296	c.1012C>G	c.(1012-1014)Cag>Gag	p.Q338E	TOX3_ENST00000407228.3_Missense_Mutation_p.Q333E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	338					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGGATGGTCTGGGCTTCTGCT	0.438000													13	56					0	0	0.013537	0	0
PLCB2	5330	broad.mit.edu	37	15	40581116	40581116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:40581116G>A	ENST00000260402.3	-	32	3607	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	PLCB2_ENST00000456256.2_Nonsense_Mutation_p.Q1105*|PLCB2_ENST00000557821.1_Nonsense_Mutation_p.Q1116*	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1120					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGA	0.632000													5	58					0	0	0.000602	0	0
SETX	23064	broad.mit.edu	37	9	135221775	135221775	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr9:135221775T>A	ENST00000372169.2	-	4	443	c.261A>T	c.(259-261)ttA>ttT	p.L87F	SETX_ENST00000224140.5_Missense_Mutation_p.L87F|SETX_ENST00000393220.1_Missense_Mutation_p.L87F			Q7Z333	SETX_HUMAN	senataxin	87					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTACTATATATAACTCATCAT	0.338000													8	23					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179427268	179427268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:179427268G>T	ENST00000589042.1	-	326	83815	c.83591C>A	c.(83590-83592)cCc>cAc	p.P27864H	TTN_ENST00000342992.6_Missense_Mutation_p.P25296H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18924H|TTN_ENST00000342175.6_Missense_Mutation_p.P18991H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26223H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26223	Ig-like 130.						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)			AGGTGGGAGGGGTGGTTCAGA	0.448000													12	55					3.07112e-06	6.66811e-06	0.010729	1	0
PRKCG	5582	broad.mit.edu	37	19	54401269	54401269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:54401269C>T	ENST00000536044.1	+	9	1204	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PRKCG_ENST00000540413.1_Silent_p.T332T|PRKCG_ENST00000263431.3_Silent_p.T332T|PRKCG_ENST00000542049.1_Silent_p.T219T			P05129	KPCG_HUMAN	protein kinase C, gamma	0					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		cTAGTCCCACCGACCCCAAGC	0.587000													11	81					0	0	0.010729	0	0
GPR158	57512	broad.mit.edu	37	10	25887168	25887168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr10:25887168G>T	ENST00000376351.3	+	11	2972	c.2613G>T	c.(2611-2613)gaG>gaT	p.E871D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	871						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						AGTCCACGGAGTCGGTGCCGT	0.498000													28	78					5.61819e-17	1.29055e-16	0.005443	1	0
AUP1	550	broad.mit.edu	37	2	74755571	74755571	+	Silent	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:74755571C>A	ENST00000377526.3	-	5	879	c.570G>T	c.(568-570)ctG>ctT	p.L190L		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	256						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TCTGAACTTGCAGGGTAAGAG	0.527000													17	44					9.7654e-05	0.000205009	0.007413	1	0
ZNF621	285268	broad.mit.edu	37	3	40573572	40573572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr3:40573572C>G	ENST00000339296.5	+	5	763	c.311C>G	c.(310-312)tCt>tGt	p.S104C	ZNF621_ENST00000310898.1_Missense_Mutation_p.S104C|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.S104C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CAGGAAGCCTCTGAAGAAACA	0.423000													18	38					0	0	0.006122	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048805	102048805	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr10:102048805T>A	ENST00000318222.3	-	15	2641	c.2259A>T	c.(2257-2259)caA>caT	p.Q753H	PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q678H|PKD2L1_ENST00000353274.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	753					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAAATAGCTTGTTCCTTCT	0.507000													27	31					0	0	0.010818	0	0
ZNF304	57343	broad.mit.edu	37	19	57868268	57868268	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:57868268A>G	ENST00000391705.3	+	4	1315	c.1031A>G	c.(1030-1032)tAc>tGc	p.Y344C	ZNF304_ENST00000598744.1_Missense_Mutation_p.Y302C|ZNF304_ENST00000282286.5_Missense_Mutation_p.Y344C|ZNF304_ENST00000443917.2_Missense_Mutation_p.Y391C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAAAAGCCTACAGCAGAAGC	0.473000													16	37					0	0	0.006122	0	0
INHA	3623	broad.mit.edu	37	2	220439871	220439871	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:220439871T>A	ENST00000243786.2	+	2	904	c.724T>A	c.(724-726)Tct>Act	p.S242T		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	242					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGGCCTTGGTCTCCCTCTGC	0.657000													9	38					0	0	0.006214	0	0
NACA	4666	broad.mit.edu	37	12	57114446	57114446	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr12:57114446G>C	ENST00000454682.1	-	3	1149	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.Q290E|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGTCTTTTGAGAAGAGGTC	0.498000			T	BCL6	NHL								9	44					0	0	0.004482	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340095	100340095	+	RNA	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:100340095C>A	ENST00000341853.1	-	0	831					NR_003260.1																						CTTGTCCCTACGCGAGTGCAG	0.592000													6	17					2.0095e-06	4.39318e-06	0.001984	1	0
ZNF644	84146	broad.mit.edu	37	1	91405606	91405606	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:91405606C>T	ENST00000370440.1	-	3	1522	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.G435G|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTGACTATTCCCATCTAAAT	0.413000													20	56					0	0	0.008871	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													3	117					0	0	0.009096	0	0
SRCIN1	80725	broad.mit.edu	37	17	36734745	36734745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:36734745G>C	ENST00000264659.7	-	2	546	c.322C>G	c.(322-324)Cag>Gag	p.Q108E	SRCIN1_ENST00000578925.1_Missense_Mutation_p.Q108E	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	133					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCACTCACCTGCTCTCGCATC	0.701000													6	21					0	0	0.001984	0	0
CYB5D2	124936	broad.mit.edu	37	17	4053285	4053285	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:4053285C>T	ENST00000301391.3	+	2	851	c.351C>T	c.(349-351)caC>caT	p.H117H	CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000575251.1_Silent_p.H5H|CYB5D2_ENST00000573984.1_Silent_p.H5H	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	117	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TGACACTTCACAATTGGCTTT	0.493000													32	36					0	0	0.009535	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035195	110035195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:110035195G>A	ENST00000453089.2	+	5	2173	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.G463E|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.G462E			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	462							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAAACGAAGGAGGACTGGTG	0.493000													25	30					0	0	0.003954	0	0
TDRD1	56165	broad.mit.edu	37	10	115985910	115985910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr10:115985910G>A	ENST00000251864.2	+	22	3263	c.3110G>A	c.(3109-3111)aGa>aAa	p.R1037K	TDRD1_ENST00000369280.1_Missense_Mutation_p.R1037K|TDRD1_ENST00000369281.2_Missense_Mutation_p.R923K|TDRD1_ENST00000422662.1_Missense_Mutation_p.R641K|TDRD1_ENST00000369282.1_Missense_Mutation_p.R1037K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1037	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTCTTTGCAGAGTGCAACCA	0.438000													13	44					0	0	0.013537	0	0
WWOX	51741	broad.mit.edu	37	16	78198111	78198111	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:78198111T>G	ENST00000566780.1	+	5	807	c.441T>G	c.(439-441)caT>caG	p.H147Q	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000406884.2_Missense_Mutation_p.H147Q|WWOX_ENST00000355860.3_Missense_Mutation_p.H147Q|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.H147Q	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	147	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTGCCCTCCATGGTGCACATG	0.443000													15	34					0	0	0.006122	0	0
KCND2	3751	broad.mit.edu	37	7	120386013	120386013	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:120386013T>C	ENST00000331113.4	+	5	2612	c.1647T>C	c.(1645-1647)caT>caC	p.H549H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	549					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGGAAGCCATCAAGGTAGTA	0.448000													15	104					0	0	0.003163	0	0
OR51A4	401666	broad.mit.edu	37	11	4967807	4967807	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:4967807T>C	ENST00000380373.2	-	1	549	c.524A>G	c.(523-525)cAa>cGa	p.Q175R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		ATGGGATAATTGGTTTTTCTT	0.413000													48	73					0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10417306	10417306	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr3:10417306C>T	ENST00000397077.1	-	10	1664	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	ATP2B2_ENST00000383800.4_Silent_p.T363T|ATP2B2_ENST00000360273.2_Silent_p.T408T|ATP2B2_ENST00000352432.4_Silent_p.T408T|ATP2B2_ENST00000343816.4_Silent_p.T394T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	408					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATCACCGTGATGGCTG	0.562000													14	11					0	0	0.003163	0	0
ANLN	54443	broad.mit.edu	37	7	36459871	36459871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:36459871C>T	ENST00000265748.2	+	11	2184	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	ANLN_ENST00000396068.2_Nonsense_Mutation_p.R618*	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	655	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCGTGTCCCTCGAGCTGAATC	0.443000													20	156					0	0	0.014323	0	0
SHANK3	85358	broad.mit.edu	37	22	51143288	51143288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr22:51143288G>A	ENST00000414786.2	+	15	2079	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SHANK3_ENST00000445220.2_Missense_Mutation_p.E633K|SHANK3_ENST00000262795.3_Missense_Mutation_p.E648K			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	648										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTTCCTCATCGAGGTGAGGTC	0.692000													9	47					0	0	0.004482	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140587	178140587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr5:178140587G>C	ENST00000335815.2	-	5	489	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	98					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTGTGTTTGCGTTGACTTT	0.368000													37	47					0	0	0.006230	0	0
SPRED2	200734	broad.mit.edu	37	2	65541019	65541019	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:65541019C>T	ENST00000356388.4	-	6	1062	c.873G>A	c.(871-873)caG>caA	p.Q291Q	SPRED2_ENST00000443619.2_Silent_p.Q288Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	291					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCCGGGAGGGCTGCGTCTTGA	0.662000													21	96					0	0	0.008871	0	0
MFSD10	10227	broad.mit.edu	37	4	2932838	2932838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr4:2932838C>T	ENST00000329687.4	-	11	1736	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MFSD10_ENST00000514800.1_Missense_Mutation_p.R401H|MFSD10_ENST00000507555.1_Missense_Mutation_p.A365T|MFSD10_ENST00000355443.4_Missense_Mutation_p.R401H|MFSD10_ENST00000508221.1_Missense_Mutation_p.A355T	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	401					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACCTAGGCTGCGCAGTGTACC	0.706000													5	5					0	0	0.000602	0	0
TRAC	28755	broad.mit.edu	37	14	23016536	23016536	+	RNA	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr14:23016536C>T	ENST00000478163.3	+	0	90																											TTTTGATTCTCAAACAAATGT	0.448000													30	168					0	0	0.006320	0	0
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr14:70924812C>T	ENST00000603540.1	+	2	854	c.596C>T	c.(595-597)tCt>tTt	p.S199F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	199					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448000													4	98					0	0	0.001168	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117501264	117501264	+	Splice_Site	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:117501264C>T	ENST00000160373.3	-	2	279	c.189_splice	c.e2+1	p.R63_splice		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	63										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGTCCTTACCCGCAGGGCCTC	0.483000													7	25					0	0	0.004482	0	0
ZNF644	84146	broad.mit.edu	37	1	91403926	91403926	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:91403926G>A	ENST00000370440.1	-	3	3202	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.A995A|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAACATGACGGGCTTCATAGC	0.428000													17	56					0	0	0.004990	0	0
GDPD4	220032	broad.mit.edu	37	11	76928297	76928297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr11:76928297C>T	ENST00000376217.2	-	17	1807	c.1557G>A	c.(1555-1557)atG>atA	p.M519I	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	519					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CAGGAGGTTTCATGGCTATGT	0.458000													13	59					0	0	0.003163	0	0
MON1B	22879	broad.mit.edu	37	16	77229484	77229484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:77229484G>T	ENST00000248248.3	+	5	1698	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	MON1B_ENST00000439557.2_Missense_Mutation_p.D341Y|MON1B_ENST00000320859.6_Silent_p.R113R|MON1B_ENST00000545553.1_Missense_Mutation_p.D304Y	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	450							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCGGCTGTCGGACCTGTACCA	0.627000													7	40					5.4927e-09	1.23488e-08	0.004482	1	0
ABCC5	10057	broad.mit.edu	37	3	183681281	183681281	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr3:183681281G>A	ENST00000334444.6	-	15	2367	c.2127C>T	c.(2125-2127)gaC>gaT	p.D709D	ABCC5_ENST00000265586.6_Silent_p.D709D	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	709	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGGGGTCGTCCAGGATGT	0.547000													21	119					0	0	0.008871	0	0
C8orf76	84933	broad.mit.edu	37	8	124250097	124250097	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr8:124250097C>T	ENST00000276704.4	-	3	349	c.298G>A	c.(298-300)Gct>Act	p.A100T	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A68T|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	100							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACACCGAGCCTGACCTTCC	0.428000													40	36					0	0	0.007835	0	0
CDH17	1015	broad.mit.edu	37	8	95182707	95182707	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr8:95182707T>C	ENST00000027335.3	-	9	1108	c.984A>G	c.(982-984)gtA>gtG	p.V328V	CDH17_ENST00000450165.2_Silent_p.V328V|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	328	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTAACTTTTACATGAATTT	0.398000													22	94					0	0	0.010504	0	0
EP300	2033	broad.mit.edu	37	22	41489079	41489079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr22:41489079C>A	ENST00000263253.7	+	1	1290	c.71C>A	c.(70-72)tCg>tAg	p.S24*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	24	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGGCCCTCTCGGCGTCCGCC	0.542000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	105					1.67942e-08	3.74912e-08	0.006122	1	0
ALG1L2	644974	broad.mit.edu	37	3	129813348	129813348	+	RNA	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr3:129813348C>T	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										GGACTACCCCCGCTTCTAGGT	0.617000													6	20					0	0	0.001984	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294748	110294748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:110294748G>A	ENST00000369805.3	-	15	1535	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000361965.4_Nonsense_Mutation_p.Q435*|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	435						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCCCCAGGCTGAGGGTCATGG	0.562000													36	133					0	0	0.009718	0	0
COL9A2	1298	broad.mit.edu	37	1	40771397	40771397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:40771397G>A	ENST00000372748.3	-	21	1193	c.1097C>T	c.(1096-1098)cCt>cTt	p.P366L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	366	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCTTTCCCAGGGGGACCAGA	0.612000													11	43					0	0	0.013537	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770919	145770919	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr8:145770919C>T	ENST00000276826.5	-	5	2436	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	ARHGAP39_ENST00000540274.1_Silent_p.E745E|ARHGAP39_ENST00000377307.2_Silent_p.E745E|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTTGAAGAGCTCGCAGGCCT	0.632000													31	51					0	0	0.003271	0	0
TAP1	6890	broad.mit.edu	37	6	32816769	32816769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr6:32816769C>T	ENST00000354258.4	-	6	1716	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TAP1_ENST00000425148.2_Missense_Mutation_p.E258K|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	519	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GACCTCACCTCCACAGCCTGG	0.532000													12	29					0	0	0.010729	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	24					0	0	0.004672	0	0
ACP6	51205	broad.mit.edu	37	1	147131783	147131783	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:147131783T>C	ENST00000369238.5	-	2	774	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ACP6_ENST00000392988.2_Silent_p.Q109Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	109					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCTCATGGTATTGAGAGTCGT	0.517000													12	89					0	0	0.001855	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410230	32410230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr6:32410230C>T	ENST00000395388.2	+	2	197	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.H30Y	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	30	Alpha-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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTCAGAAGAACATGTGATCAT	0.433000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				51	161					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507000													177	412					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179638736	179638736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr2:179638736C>T	ENST00000589042.1	-	31	7383	c.7159G>A	c.(7159-7161)Gtc>Atc	p.V2387I	TTN_ENST00000342992.6_Missense_Mutation_p.V2387I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V2341I|TTN_ENST00000342175.6_Missense_Mutation_p.V2341I|TTN_ENST00000360870.5_Missense_Mutation_p.V2387I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V2341I|TTN_ENST00000591111.1_Missense_Mutation_p.V2387I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2110	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V2341F(2)|p.V2387F(2)		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)			TTCATCCAGACGCCTTCCACA	0.463000													21	107					0	0	0.012319	0	0
CNTN2	6900	broad.mit.edu	37	1	205034931	205034931	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:205034931G>A	ENST00000331830.4	+	14	1994	c.1710G>A	c.(1708-1710)ggG>ggA	p.G570G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	570	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCATTGGGGATCTGACCA	0.642000													9	71					0	0	0.004482	0	0
TOX3	27324	broad.mit.edu	37	16	52473857	52473857	+	Silent	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr16:52473857G>T	ENST00000219746.9	-	7	1295	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A	TOX3_ENST00000407228.3_Silent_p.A332A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	337					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGATGGTCTGGGCTTCTGCTG	0.433000													13	56					2.27111e-07	5.03456e-07	0.013537	1	0
OR10J1	26476	broad.mit.edu	37	1	159410091	159410091	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:159410091T>C	ENST00000423932.3	+	1	580	c.543T>C	c.(541-543)gcT>gcC	p.A181A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	181					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCTTCTGTGCTAGAAAGGTGC	0.493000													64	154					0	0	0.014410	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18781170	18781170	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:18781170G>C	ENST00000268835.2	+	6	682	c.399G>C	c.(397-399)atG>atC	p.M133I	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.M47I|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.M93I|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.M133I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	133					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGGCTTCCATGATGTGCAAAG	0.428000													21	64					0	0	0.012319	0	0
DISP1	84976	broad.mit.edu	37	1	223177961	223177961	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:223177961C>T	ENST00000284476.6	+	8	3386	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1074					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTGATCTTCTCTCTGAGTC	0.587000													24	78					0	0	0.014323	0	0
PRTG	283659	broad.mit.edu	37	15	55931883	55931883	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:55931883G>T	ENST00000389286.4	-	13	2328	c.2281C>A	c.(2281-2283)Cct>Act	p.P761T		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	761	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGCCAACAGGATTACAGCGG	0.478000													16	82					3.32936e-07	7.32921e-07	0.006122	1	0
NKPD1	284353	broad.mit.edu	37	19	45655923	45655923	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:45655923T>G	ENST00000317951.4	-	4	1771	c.1772A>C	c.(1771-1773)gAc>gCc	p.D591A	NKPD1_ENST00000589776.1_Missense_Mutation_p.D369A|NKPD1_ENST00000438936.2_Missense_Mutation_p.D369A|NKPD1_ENST00000429338.1_Missense_Mutation_p.D369A	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCCGCCTCGTCGTCGATGCG	0.741000													3	4					0	0	0.009096	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539638	120539638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:120539638C>A	ENST00000256646.2	-	4	952	c.733G>T	c.(733-735)Gag>Tag	p.E245*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.E206*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	245	EGF-like 6.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTTGCACTCAAAAGTGAAG	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	31					0.000157383	0.000328227	0.003080	1	0
KIF21B	23046	broad.mit.edu	37	1	200944027	200944027	+	Silent	SNP	C	C	T	rs140999969		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr1:200944027C>T	ENST00000332129.2	-	33	4906	c.4590G>A	c.(4588-4590)gcG>gcA	p.A1530A	KIF21B_ENST00000360529.5_Silent_p.A1530A|KIF21B_ENST00000461742.2_Silent_p.A1543A|KIF21B_ENST00000422435.2_Silent_p.A1543A	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1543					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCCTTGTGCGCATTGGGGA	0.642000													16	131					0	0	0.004007	0	0
AEBP1	165	broad.mit.edu	37	7	44153489	44153489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:44153489C>T	ENST00000223357.3	+	21	3411	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	AEBP1_ENST00000450684.2_Missense_Mutation_p.R611W	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1036	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (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						GATGCGGCTGCGGCGCCTCAA	0.692000													12	38					0	0	0.010729	0	0
ASTN2	23245	broad.mit.edu	37	9	120176823	120176823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr9:120176823C>T	ENST00000313400.4	-	1	494	c.394G>A	c.(394-396)Gcg>Acg	p.A132T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.A132T|ASTN2_ENST00000373996.3_Missense_Mutation_p.A132T			O75129	ASTN2_HUMAN	astrotactin 2	132						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCTGCACCGCGATGCGCCCC	0.726000													13	35					0	0	0.003163	0	0
SLTM	79811	broad.mit.edu	37	15	59185178	59185178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr15:59185178G>A	ENST00000380516.2	-	14	1903	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.P175S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	606	Arg/Glu-rich.			P -> S (in Ref. 3; AAH14944).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCAAAAGGCAAGATCTCT	0.368000													12	38					0	0	0.010729	0	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	111	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													2	4	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													3	3	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971132	21971133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:21971132_21971133insG	ENST00000579755.1	-	2	560_561	c.268_269insC	c.(268-270)ccafs	p.P90fs	CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.P131fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.P90fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.H76fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.H25fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A76fs*70(2)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.R131fs*44(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A76T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGAGAGTGGCGGGGTCGGCGC	0.708		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	20	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49423208	49423208	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:49423208delG	ENST00000301067.7	-	43	14050	c.14051delC	c.(14050-14052)ctfs	p.P4684fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGATTGTGAGGGGGTGTAGG	0.562													2	4	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													14	18	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577120	7577137	+	In_Frame_Del	DEL	CGCACCTCAAAGCTGTTC	CGCACCTCAAAGCTGTTC	-	rs121912657	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC	ENST00000420246.2	-	8	933_950	c.801_818delGAACAGCTTTGAGGTGCG	c.(799-819)cgt>cg	p.RNSFEVR267del	TP53_ENST00000445888.2_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000455263.2_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000359597.4_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000269305.4_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273C(481)|p.R273L(93)|p.V272M(82)|p.R273P(32)|p.E271K(28)|p.V272L(26)|p.F270L(24)|p.E271*(18)|p.R273S(16)|p.F270C(15)|p.R273G(9)|p.F270S(8)|p.V272E(8)|p.0?(8)|p.F270V(7)|p.V272A(7)|p.E271V(6)|p.V272G(6)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.V272V(5)|p.S269C(4)|p.S269N(4)|p.R267R(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.S269G(3)|p.S269S(3)|p.E271G(3)|p.E271D(3)|p.E271fs*74(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.V272>?(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTA	0.537	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	33	---	---	---	---					
VAT1	10493	broad.mit.edu	37	17	41174211	41174213	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:41174211_41174213delGGC	ENST00000355653.3	-	1	222_224	c.127_129delGCC	c.(127-129)del	p.A43del	VAT1_ENST00000587173.1_In_Frame_Del_p.A43del	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	43						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		gtggcggcgaggcggcggcggcg	0.754													2	4	---	---	---	---					
ERN1	2081	broad.mit.edu	37	17	62207374	62207376	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:62207374_62207376delGCC	ENST00000433197.2	-	1	109_111	c.14_16delGGC	c.(13-18)ctg>c	p.RL5del	ERN1_ENST00000606895.1_In_Frame_Del_p.RL5del	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	5					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						agcagcagcagcCGCCGGGCCGG	0.783													2	4	---	---	---	---					
FRMD7	90167	broad.mit.edu	37	X	131212552	131212553	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:131212552_131212553insA	ENST00000298542.4	-	12	1667_1668	c.1492_1493insT	c.(1492-1494)tgtfs	p.C498fs	FRMD7_ENST00000464296.1_Frame_Shift_Ins_p.C483fs|FRMD7_ENST00000370879.1_Frame_Shift_Ins_p.C378fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					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)					CTTGTCCACATAAAAAAAGACC	0.500													32	146	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													3	3	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971132	21971133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr9:21971132_21971133insG	ENST00000579755.1	-	2	560_561	c.268_269insC	c.(268-270)ccafs	p.P90fs	CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.H25fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.P90fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.P131fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A76fs*70(2)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.R131fs*44(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A76T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGAGAGTGGCGGGGTCGGCGC	0.708		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	20	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49423208	49423208	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr12:49423208delG	ENST00000301067.7	-	43	14050	c.14051delC	c.(14050-14052)ctfs	p.P4684fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGATTGTGAGGGGGTGTAGG	0.562													2	4	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													14	18	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577120	7577137	+	In_Frame_Del	DEL	CGCACCTCAAAGCTGTTC	CGCACCTCAAAGCTGTTC	-	rs121912657	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC	ENST00000420246.2	-	8	933_950	c.801_818delGAACAGCTTTGAGGTGCG	c.(799-819)cgt>cg	p.RNSFEVR267del	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000359597.4_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000445888.2_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000455263.2_In_Frame_Del_p.RNSFEVR267del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273C(481)|p.R273L(93)|p.V272M(82)|p.R273P(32)|p.E271K(28)|p.V272L(26)|p.F270L(24)|p.E271*(18)|p.R273S(16)|p.F270C(15)|p.R273G(9)|p.F270S(8)|p.V272E(8)|p.0?(8)|p.F270V(7)|p.V272A(7)|p.E271V(6)|p.V272G(6)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.V272V(5)|p.S269C(4)|p.S269N(4)|p.R267R(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.S269G(3)|p.S269S(3)|p.E271G(3)|p.E271D(3)|p.E271fs*74(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.V272>?(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTA	0.537	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	33	---	---	---	---					
VAT1	10493	broad.mit.edu	37	17	41174211	41174213	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr17:41174211_41174213delGGC	ENST00000355653.3	-	1	222_224	c.127_129delGCC	c.(127-129)del	p.A43del	VAT1_ENST00000587173.1_In_Frame_Del_p.A43del	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	43						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		gtggcggcgaggcggcggcggcg	0.754													2	4	---	---	---	---