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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RGS21	431704	broad.mit.edu	37	1	192321182	192321182	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:192321182C>A	uc001gsh.3	+	3	268	c.94C>A	c.(94-96)Cta>Ata	p.L32I		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	32	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TATAGCTGGTCTAGATGCTTT	0.303000														41			19		1.56452e-12	1.74505e-12	0.043863	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679916	53679916	+	Splice_Site	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:53679916C>T	uc002ehp.3	-	17	2369	c.2305_splice	c.e17-1	p.L769_splice	RPGRIP1L_uc002eho.4_Splice_Site_p.L769_splice|RPGRIP1L_uc010vgy.2_Splice_Site_p.L769_splice|RPGRIP1L_uc010cbx.3_Splice_Site_p.L769_splice|RPGRIP1L_uc010vgz.1_Splice_Site_p.L769_splice	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	769					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTGACTTAACTGGAAAAACA	0.358000														47			21		0	0	0.055883	0	0
CAMK2D	817	broad.mit.edu	37	4	114680566	114680566	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:114680566C>T	uc003ibi.3	-	1	929	c.70G>A	c.(70-72)Gca>Aca	p.A24T	CAMK2D_uc003ibj.3_Missense_Mutation_p.A24T|CAMK2D_uc003ibk.3_Missense_Mutation_p.A24T|CAMK2D_uc003ibo.4_Missense_Mutation_p.A24T|CAMK2D_uc003ibm.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibn.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibl.2_Missense_Mutation_p.A24T	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	24	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGAGAATGCCCCCCTGGAA	0.323000														151			4		0	0	0.009096	0	0
BASP1	10409	broad.mit.edu	37	5	17275508	17275508	+	Silent	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:17275508C>T	uc003jfx.3	+	1	362	c.183C>T	c.(181-183)gaC>gaT	p.D61D	BASP1_uc021xws.1_Silent_p.D61D	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	61					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCGACCAGGACGCCGAGGGCA	0.736000														6			3		0	0	0.009096	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473827	145473827	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:145473827G>A	uc021ouy.1	+	0	499	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	ANKRD34A_uc001enq.1_Missense_Mutation_p.G167R	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	167										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCATCCCCAGGGGTGGAGGA	0.617000														94			23		0	0	0.083992	0	0
CDH9	1007	broad.mit.edu	37	5	26881407	26881407	+	Silent	SNP	T	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:26881407T>G	uc003jgs.1	-	11	2377	c.2208A>C	c.(2206-2208)gcA>gcC	p.A736A	CDH9_uc011cnv.1_Silent_p.A329A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	736					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGCATACGTTGCCAGCGAAT	0.418000														126			63		0	0	0.048971	0	0
GK2	2712	broad.mit.edu	37	4	80328975	80328975	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:80328975C>T	uc003hlu.3	-	0	398	c.380G>A	c.(379-381)aGt>aAt	p.S127N		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	127					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTTTTTTACTAAGATCCTC	0.428000														158			58		0	0	0.048971	0	0
ANKRD44	91526	broad.mit.edu	37	2	197943464	197943464	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:197943464T>G	uc021vuj.1	-	15	1806	c.1613A>C	c.(1612-1614)tAt>tCt	p.Y538S	ANKRD44_uc002utz.4_Missense_Mutation_p.Y245S|ANKRD44_uc021vuk.1_Missense_Mutation_p.Y513S|ANKRD44_uc002uub.3_Missense_Mutation_p.Y538S|ANKRD44_uc010zgw.2_Missense_Mutation_p.Y466S	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	538							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCGGCAGCATAATGTATGCT	0.413000														37			11		0	0	0.093190	0	0
DNHD1	144132	broad.mit.edu	37	11	6588129	6588129	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588129G>A	uc001mdw.4	+	35	11954	c.11390G>A	c.(11389-11391)cGg>cAg	p.R3797Q	DNHD1_uc001mea.4_Missense_Mutation_p.R66Q|DNHD1_uc001meb.3_Missense_Mutation_p.R65Q|DNHD1_uc001mec.3_Missense_Mutation_p.R65Q|DNHD1_uc010rao.2_Intron|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3797					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGCAGGAGCGGCTGCTGACG	0.542000														6			7		0	0	0.047766	0	0
ADAM7	8756	broad.mit.edu	37	8	24350563	24350563	+	Nonsense_Mutation	SNP	A	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350563A>T	uc003xeb.3	+	15	1776	c.1663A>T	c.(1663-1665)Aga>Tga	p.R555*	ADAM7_uc003xec.3_Nonsense_Mutation_p.R327*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	555	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGAGATGTCAGATGTGGAAA	0.448000														62			12		0	0	0.105934	0	0
ERI3	79033	broad.mit.edu	37	1	44804751	44804751	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:44804751T>G	uc001clt.3	-	2	696	c.455A>C	c.(454-456)gAg>gCg	p.E152A	ERI3_uc010okv.2_Intron|ERI3_uc010okw.2_Missense_Mutation_p.E74A	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	152	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCACGTGGCCTCAAAGTCCAG	0.547000														229			145		0	0	0.048971	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142526856	142526856	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:142526856G>A	uc011dbj.2	+	19	1933	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ARHGAP26_uc003lmt.3_Missense_Mutation_p.S633N|ARHGAP26_uc003lmw.3_Missense_Mutation_p.S633N	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	633	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCCAAACAGCATCCTTAAT	0.473000														109			45		0	0	0.045515	0	0
PKD1	5310	broad.mit.edu	37	16	2164291	2164291	+	Silent	SNP	C	A	A	rs4018173		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:2164291C>A	uc002cos.1	-	10	2942	c.2733G>T	c.(2731-2733)gtG>gtT	p.V911V	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.V911V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	911	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTCCACCACCACGTCCACCA	0.697000														36			4		0.00198382	0.00218471	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179465605	179465605	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:179465605G>A	uc021vsy.1	-	236	48547	c.48322C>T	c.(48322-48324)Cct>Tct	p.P16108S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P9803S|TTN_uc021vta.1_Missense_Mutation_p.P9736S|TTN_uc021vtb.1_Missense_Mutation_p.P9611S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17035	Ig-like 99.						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)			ACAGTCACAGGGCCAACAGTG	0.448000														124			36		0	0	0.042209	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123152041	123152041	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:123152041C>T	uc004bkf.3	-	36	5784	c.5603G>A	c.(5602-5604)cGg>cAg	p.R1868Q	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.R877Q|CDK5RAP2_uc004bke.3_Missense_Mutation_p.R1153Q|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.R1789Q|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.R1133Q|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.R1133Q|CDK5RAP2_uc011lya.2_Missense_Mutation_p.R1133Q	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1868	Interaction with PCNT and AKAP9.|Required for centrosomal attachment, Golgi localization and CALM1 interaction.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGGCCTTCCGAAGGATTTT	0.517000														61			6		0	0	0.021553	0	0
BIN1	274	broad.mit.edu	37	2	127828379	127828379	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:127828379C>T	uc002tns.2	-	2	563	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	BIN1_uc010yzf.2_Missense_Mutation_p.R36Q|BIN1_uc002tnt.2_Missense_Mutation_p.R60Q|BIN1_uc010yzg.2_Missense_Mutation_p.R60Q|BIN1_uc002tnu.2_Missense_Mutation_p.R60Q|BIN1_uc002tnv.2_Missense_Mutation_p.R60Q|BIN1_uc002tnw.2_Missense_Mutation_p.R60Q|BIN1_uc002tnx.2_Missense_Mutation_p.R60Q|BIN1_uc002tny.2_Missense_Mutation_p.R60Q|BIN1_uc002tnz.2_Missense_Mutation_p.R60Q|BIN1_uc002toa.2_Missense_Mutation_p.R60Q|BIN1_uc002tob.2_Missense_Mutation_p.R60Q|BIN1_uc002toc.2_Missense_Mutation_p.R60Q	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	60	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTCTGCAGCCGGGTGCCCTC	0.637000														41			12		0	0	0.093190	0	0
DNAH11	8701	broad.mit.edu	37	7	21730409	21730409	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21730409C>T	uc003svc.3	+	35	6003	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1991	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCTATCACACTGAAGCCA	0.363000									Kartagener syndrome					325			6		0	0	0.021553	0	0
ZNF366	167465	broad.mit.edu	37	5	71756221	71756221	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:71756221A>G	uc003kce.1	-	1	1289	c.1103T>C	c.(1102-1104)gTg>gCg	p.V368A		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCGCACTCCACACAGATGTT	0.657000														41			11		0	0	0.080935	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427311	38427311	+	Missense_Mutation	SNP	G	A	A	rs147520523	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:38427311G>A	uc003jlc.2	+	13	2357	c.2011G>A	c.(2011-2013)Gtg>Atg	p.V671M	EGFLAM_uc003jlb.2_Missense_Mutation_p.V671M|EGFLAM_uc003jle.2_Missense_Mutation_p.V437M|EGFLAM_uc003jlf.2_Missense_Mutation_p.V37M	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	671	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse		p.H670H(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGGGGGCCACGTGGAGTTCCG	0.522000														222			6		0	0	0.021553	0	0
CLASP1	23332	broad.mit.edu	37	2	122139824	122139824	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:122139824C>T	uc002tnc.3	-	31	3838	c.3448G>A	c.(3448-3450)Gct>Act	p.A1150T	CLASP1_uc010yyv.2_Intron|CLASP1_uc002tmz.3_Missense_Mutation_p.A236T|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tnf.3_Intron	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1151					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGGGAGGGAGCGGTGGGGATG	0.522000														11			10		0	0	0.093190	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832986	34832986	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:34832986G>A	uc002nvd.4	+	9	3006	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	716										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCCAGCCGGGACTGGCACCT	0.647000														142			54		0	0	0.048971	0	0
TNNT1	7138	broad.mit.edu	37	19	55649402	55649402	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:55649402C>T	uc002qjb.4	-	9	517	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TNNT1_uc002qjc.4_Missense_Mutation_p.R143Q|TNNT1_uc002qje.4_Missense_Mutation_p.R132Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R132Q|TNNT1_uc002qjf.2_Missense_Mutation_p.R139Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	143					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		ATCCTCTGCCCGCTTCTTGGC	0.572000														97			32		0	0	0.074837	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449736	61449736	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr18:61449736T>A	uc002ljl.3	+	1	226	c.130T>A	c.(130-132)Ttg>Atg	p.L44M	SERPINB7_uc002ljm.3_Missense_Mutation_p.L44M|SERPINB7_uc010xet.2_Missense_Mutation_p.L44M|SERPINB7_uc010dqg.3_Missense_Mutation_p.L44M	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	44					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTGGTCCGCTTGGGCGCTCA	0.473000														94			38		0	0	0.104719	0	0
CCDC84	338657	broad.mit.edu	37	11	118885707	118885707	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:118885707C>G	uc001pul.3	+	8	775	c.719C>G	c.(718-720)gCc>gGc	p.A240G	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	240										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TTTTCAGGTGCCACACCTCCC	0.353000														71			31		0	0	0.037714	0	0
EFR3A	23167	broad.mit.edu	37	8	132971845	132971845	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:132971845C>G	uc003yte.3	+	7	994	c.790C>G	c.(790-792)Cac>Gac	p.H264D		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	264						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTAGATCATCACAAACTGTG	0.284000														68			21		0	0	0.069288	0	0
KRT222	125113	broad.mit.edu	37	17	38812821	38812821	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:38812821G>A	uc002hvc.2	-	5	786	c.721C>T	c.(721-723)Cga>Tga	p.R241*	KRT222_uc002hvb.2_Nonsense_Mutation_p.R201*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	241						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCCTCAATCGAGGGTTATCT	0.338000														85			34		0	0	0.059317	0	0
DENND1C	79958	broad.mit.edu	37	19	6468913	6468913	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:6468913G>A	uc002mfe.3	-	19	1551	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	DENND1C_uc002mfb.3_Missense_Mutation_p.P37S|DENND1C_uc002mfc.3_Missense_Mutation_p.P37S|DENND1C_uc002mfd.3_Missense_Mutation_p.P37S|DENND1C_uc010xje.2_Missense_Mutation_p.P443S	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	487						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCGGCTGGGGAGGGCTGGG	0.617000														17			12		0	0	0.105934	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						94			3		0	0	0.029380	0	0
POLR2A	5430	broad.mit.edu	37	17	7414879	7414879	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:7414879C>T	uc002ghf.4	+	23	4459	c.4073C>T	c.(4072-4074)aCg>aTg	p.T1358M		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1358					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTACGCACCACGTCCAATGAC	0.597000														29			8		0	0	0.058154	0	0
ZNF675	171392	broad.mit.edu	37	19	23836144	23836144	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:23836144T>A	uc002nri.3	-	3	1773	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	531					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T531T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTCTCCAGTATGAATTATC	0.343000														71			21		0	0	0.062417	0	0
DNAH11	8701	broad.mit.edu	37	7	21742356	21742356	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21742356T>C	uc003svc.3	+	37	6261	c.6230T>C	c.(6229-6231)aTt>aCt	p.I2077T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2077	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2077F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCGTGCTATTAAGTCTGTC	0.388000									Kartagener syndrome					39			10		0	0	0.024245	0	0
MGAM	8972	broad.mit.edu	37	7	141736692	141736692	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:141736692C>T	uc003vwy.3	+	17	2200	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	716	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTTAACATCCGCTATACTCT	0.532000														302			93		0	0	0.048971	0	0
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr20:39802384G>A	uc002xjp.1	+	28	3608	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517000											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			54		0	0	0.048971	0	0
SDPR	8436	broad.mit.edu	37	2	192711355	192711355	+	Silent	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:192711355C>T	uc002utb.3	-	0	652	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	99						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ACTTGGAGAGCTTGGTGAGGT	0.592000														52			21		0	0	0.055883	0	0
PEAR1	375033	broad.mit.edu	37	1	156883725	156883725	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:156883725C>T	uc001fqj.1	+	21	2911	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	PEAR1_uc001fqk.1_Missense_Mutation_p.P557L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	932	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGGACCTGCCCAGCTTGCCA	0.617000														40			33		0	0	0.050027	0	0
LOC729862	729862	broad.mit.edu	37	5	28927196	28927196	+	RNA	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:28927196G>A	uc003jgz.1	+	0		c.220G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		GAAGGATCTCGTGAGGATGAT	0.453000														38			12		0	0	0.093190	0	0
PNPLA7	375775	broad.mit.edu	37	9	140409907	140409907	+	Silent	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:140409907C>T	uc010ncj.1	-	11	1486	c.1149G>A	c.(1147-1149)gcG>gcA	p.A383A	PNPLA7_uc011mfa.1_Silent_p.A90A|PNPLA7_uc004cnf.2_Silent_p.A358A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	358					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAATGGAAGGCGCGGGGACGG	0.657000														9			3		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152275719	152275719	+	Silent	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152275719C>T	uc001ezu.1	-	2	11679	c.11643G>A	c.(11641-11643)gaG>gaA	p.E3881E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3881	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCAGACTCAGATCGCC	0.567000									Ichthyosis					158			43		0	0	0.098360	0	0
DNHD1	144132	broad.mit.edu	37	11	6588423	6588423	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588423G>A	uc001mdw.4	+	35	12248	c.11684G>A	c.(11683-11685)cGt>cAt	p.R3895H	DNHD1_uc001mea.4_Missense_Mutation_p.R164H|DNHD1_uc001meb.3_Missense_Mutation_p.R163H|DNHD1_uc001mec.3_Missense_Mutation_p.R163H|DNHD1_uc010rao.2_Missense_Mutation_p.R153H|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3895					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAGCCACGTGAGATTAAT	0.577000														116			46		0	0	0.048971	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	A	A	rs146546850	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						93			3		0	0	0.029380	0	0
CRNN	49860	broad.mit.edu	37	1	152383181	152383181	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152383181G>A	uc001ezx.2	-	2	451	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637000														448			13		0	0	0.020292	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:176525627C>T	uc001gkz.3	+	1	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.R57*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000														132			113		0	0	0.048971	0	0
ADAM7	8756	broad.mit.edu	37	8	24350112	24350112	+	Splice_Site	SNP	T	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350112T>A	uc003xeb.3	+	15	1768	c.1655_splice	c.e15+2	p.K552_splice	ADAM7_uc003xec.3_Splice_Site_p.K324_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	552	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGAGAAGTAAGTGCCCTG	0.373000														56			22		0	0	0.091800	0	0
CD82	3732	broad.mit.edu	37	11	44640201	44640201	+	Silent	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:44640201G>A	uc001myc.3	+	8	902	c.654G>A	c.(652-654)gaG>gaA	p.E218E	CD82_uc001myd.3_Silent_p.E193E	NM_002231	NP_002222	P27701	CD82_HUMAN	Homo sapiens CD82 molecule (CD82), transcript variant 1, mRNA.	218						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						GCTGCATGGAGAAGGTGCAGG	0.667000														70			20		0	0	0.091800	0	0
AGTR2	186	broad.mit.edu	37	X	115303726	115303726	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:115303726G>A	uc022cdd.1	+	0	193	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	AGTR2_uc004eqh.4_Missense_Mutation_p.V65M	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	65					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CAATATTGTCGTGGTTACACT	0.363000														141			5		0	0	0.021553	0	0
DDX3X	1654	broad.mit.edu	37	X	41204458	41204458	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:41204458C>T	uc004dfe.3	+	10	1906	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.R351W|DDX3X_uc011mkq.2_Missense_Mutation_p.R335W|DDX3X_uc011mkr.2_Missense_Mutation_p.R351W|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	351	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGAAGCTGATCGGATGTTGGA	0.408000										HNSCC(61;0.18)				49			60		0	0	0.048971	0	0
PLG	5340	broad.mit.edu	37	6	161152837	161152837	+	Missense_Mutation	SNP	C	T	T	rs140970354	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr6:161152837C>T	uc003qtm.4	+	11	1611	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	500	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTTACTGGGACGCCATGCCAG	0.507000														118			52		0	0	0.048971	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256197	97256197	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:97256197C>T	uc003yhs.1	-	6	1087	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	MTERFD1_uc003yhr.1_Missense_Mutation_p.V216M|MTERFD1_uc010mbd.1_Missense_Mutation_p.V337M	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACATTGTGCACAAAATCAAAC	0.403000														83			27		0	0	0.099896	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638766	65638766	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:65638766C>T	uc001ofy.4	-	3	488	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	77	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAAGTAGCCCCCGTAGTGG	0.647000														138			36		0	0	0.111260	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396064	38396064	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:38396064C>T	uc022bgy.1	+	0	319	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	ALDH1B1_uc004aay.3_Missense_Mutation_p.R107C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478).		carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCTGCTGAACCGCCTGGCAGA	0.632000														108			39		0	0	0.039052	0	0
IKBKE	9641	broad.mit.edu	37	1	206647731	206647731	+	Missense_Mutation	SNP	C	T	T	rs143140330		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:206647731C>T	uc001hdz.2	+	3	723	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	IKBKE_uc009xbu.2_Missense_Mutation_p.R49C|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Missense_Mutation_p.R49C	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	49	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTGCGGCCCCGCGAGGTGCA	0.582000														31			23		0	0	0.034045	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777565	18777565	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:18777565T>A	uc003zne.4	+	18	3490	c.3338T>A	c.(3337-3339)cTg>cAg	p.L1113Q		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1113						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCAGCCACCTGGAGCACCAG	0.647000														13			5		0	0	0.021553	0	0
LCT	3938	broad.mit.edu	37	2	136567270	136567270	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:136567270C>T	uc002tuu.1	-	7	2658	c.2647G>A	c.(2647-2649)Gtt>Att	p.V883I		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	883	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTTCCCAAACGACTTTAGCC	0.502000														131			46		0	0	0.042209	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434838	42434838	+	Silent	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr15:42434838G>A	uc001zoz.3	-	18	2309	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PLA2G4F_uc010bcq.3_Silent_p.D36D|PLA2G4F_uc001zoy.3_Silent_p.D371D|PLA2G4F_uc001zpa.3_Silent_p.D490D|PLA2G4F_uc010bcr.3_Silent_p.D490D|PLA2G4F_uc010bcs.3_Silent_p.D526D	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	739	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTCCATGTCCTCAGGGC	0.592000														69			26		0	0	0.034045	0	0
ABCG1	9619	broad.mit.edu	37	21	43708163	43708163	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:43708163C>T	uc011aev.2	+	8	1245	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*	ABCG1_uc002zam.3_Intron|ABCG1_uc002zan.3_Intron|ABCG1_uc002zao.3_Intron|ABCG1_uc002zap.3_Intron|ABCG1_uc002zaq.3_Nonsense_Mutation_p.R380*|ABCG1_uc002zar.3_Intron|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	380					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCAGACAAAACGATTAAAGGG	0.562000														181			22		0	0	0.055883	0	0
SMARCA1	6594	broad.mit.edu	37	X	128632026	128632026	+	Missense_Mutation	SNP	C	G	G	rs35325660		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:128632026C>G	uc011muk.1	-	10	1413	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	SMARCA1_uc004eun.4_Missense_Mutation_p.D434H|SMARCA1_uc004eup.4_Missense_Mutation_p.D434H|SMARCA1_uc011mul.1_Missense_Mutation_p.D434H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	434					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATCAATATCTTTCATCAGG	0.308000														18			18		0	0	0.038395	0	0
CCKBR	887	broad.mit.edu	37	11	6292257	6292257	+	Silent	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6292257C>T	uc001mcp.3	+	4	1083	c.828C>T	c.(826-828)aaC>aaT	p.N276N	CCKBR_uc001mcq.3_Silent_p.N204N|CCKBR_uc001mcr.3_Silent_p.N276N|CCKBR_uc001mcs.3_Silent_p.N345N|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662000														104			4		0	0	0.021553	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														9			4		0	0	0.009096	0	0
NBL1	4681	broad.mit.edu	37	1	19981874	19981874	+	Silent	SNP	A	C	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:19981874A>C	uc001bcj.2	+	2	416	c.333A>C	c.(331-333)acA>acC	p.T111T	NBL1_uc021ohw.1_Silent_p.T90T|NBL1_uc009vpl.2_Silent_p.T76T|NBL1_uc009vpm.2_Silent_p.T76T|NBL1_uc001bck.2_Silent_p.T76T|NBL1_uc021ohy.1_Silent_p.T75T|NBL1_uc021ohz.1_Silent_p.T110T	NM_182744	NP_001191018	P41271	NBL1_HUMAN	Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA.	75	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCCACAGAGTCCCTGG	0.622000														64			28		0	0	0.069456	0	0
FGA	2243	broad.mit.edu	37	4	155505774	155505774	+	Silent	SNP	G	A	A	rs148411201		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:155505774G>A	uc003iod.1	-	5	2161	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	701	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.D701D(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCCCCTCGTCATTCAGGC	0.493000														139			4		0	0	0.014758	0	0
ACAD8	27034	broad.mit.edu	37	11	134130962	134130962	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:134130962C>G	uc001qhk.3	+	6	791	c.730C>G	c.(730-732)Cga>Gga	p.R244G	ACAD8_uc010sco.1_3'UTR|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.R167G|ACAD8_uc001qhl.3_Missense_Mutation_p.R117G|ACAD8_uc010scr.1_3'UTR|ACAD8_uc009zde.1_3'UTR	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	244					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.R244*(2)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CCAGCCAACACGAGCTGTGAT	0.612000														23			3		0	0	0.009096	0	0
OR10A5	144124	broad.mit.edu	37	11	6867517	6867517	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6867517G>A	uc001met.1	+	0	604	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACGCCATCGTCGGAACCAT	0.512000														135			53		0	0	0.048971	0	0
ZNF536	9745	broad.mit.edu	37	19	31038959	31038959	+	Silent	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:31038959G>A	uc002nsu.1	+	3	2571	c.2433G>A	c.(2431-2433)ccG>ccA	p.P811P	ZNF536_uc010edd.1_Silent_p.P811P	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCTGGGCCGCTGTCTGGGC	0.567000														90			32		0	0	0.080422	0	0
CCHCR1	54535	broad.mit.edu	37	6	31125375	31125375	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr6:31125375C>T	uc003nsp.4	-	0	192	c.3G>A	c.(1-3)atG>atA	p.M1I	CCHCR1_uc011dne.2_5'Flank|CCHCR1_uc003nsq.4_Missense_Mutation_p.M1I|CCHCR1_uc003nsr.4_Intron|CCHCR1_uc010jsk.1_Intron|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AATGTGGCCACATGCAGGGCT	0.587000														16			6		0	0	0.021553	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161298	55161298	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:55161298G>C	uc003han.4	+	22	3460	c.3129G>C	c.(3127-3129)caG>caC	p.Q1043H	PDGFRA_uc003haa.3_Missense_Mutation_p.Q803H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1043	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S1042L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCAGCTCGCAGACCTCTGAAG	0.507000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				129			5		0	0	0.029380	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														4			6		0	0	0.029380	0	0
NPIPL3	23117	broad.mit.edu	37	16	21415559	21415559	+	Splice_Site	SNP	T	G	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:21415559T>G	uc021tei.1	-	11	1687	c.1570_splice	c.e11-1	p.A524_splice	LOC23117_uc021tel.1_Intron|LOC23117_uc010bwt.2_Intron|LOC23117_uc021tek.1_Non-coding_Transcript|NPIPL3_uc021tem.1_Intron|NPIPL3_uc002diu.1_Non-coding_Transcript|LOC23117_uc021ten.1_5'Flank	NM_130464	NP_569731	Q92617	NPPL3_HUMAN	Homo sapiens nuclear pore complex interacting protein-like 3 (NPIPL3), mRNA.	526						integral to membrane											ATCATCTGCCTGAGGGTGGAG	0.597000														2			3		0	0	0.009096	0	0
TPP2	7174	broad.mit.edu	37	13	103299660	103299660	+	Missense_Mutation	SNP	G	C	C	rs142623109		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:103299660G>C	uc001vpi.4	+	20	2697	c.2594G>C	c.(2593-2595)aGa>aCa	p.R865T		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	865					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAACAAAAGACAGATGGGT	0.388000														43			23		0	0	0.062417	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119504	32119504	+	Missense_Mutation	SNP	T	C	C	rs145167151		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:32119504T>C	uc011adh.2	-	0	17	c.17A>G	c.(16-18)tAc>tGc	p.Y6C		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	Homo sapiens keratin associated protein 21-2 (KRTAP21-2), mRNA.	6						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GCAGTTTCTGTAGTAGTTGCA	0.468000														106			50		0	0	0.048971	0	0
RGAG1	57529	broad.mit.edu	37	X	109695334	109695334	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:109695334A>T	uc004eor.2	+	2	1735	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	RGAG1_uc011msr.1_Missense_Mutation_p.M497L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	497								p.K496N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGAAAGATGTCCACGCC	0.507000														62			66		0	0	0.048971	0	0
PGAP3	93210	broad.mit.edu	37	17	37844245	37844245	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:37844245delA	uc002hsj.3	-	0	66	c.23delT	c.(22-24)ttgfs	p.L8fs	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Frame_Shift_Del_p.L8fs|PGAP3_uc002hsk.3_Frame_Shift_Del_p.L8fs|PGAP3_uc010cvz.3_Frame_Shift_Del_p.L8fs|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	8					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TAGCAGGACCAACCGCGCCGC	0.672													---	4	---	---	2	---					
