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
HMMR	3161	broad.mit.edu	37	5	162911176	162911176	+	Silent	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:162911176A>G	uc003lzh.3	+	15	2069	c.1887A>G	c.(1885-1887)ttA>ttG	p.L629L	HMMR_uc003lzf.3_Silent_p.L628L|HMMR_uc003lzg.3_Silent_p.L613L|HMMR_uc011dem.2_Silent_p.L542L|BC035392_uc003lzi.3_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	628						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		ATGCTAAATTATTGGGTCATC	0.313000														40			6		0	0	0.00116845	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000														19			4		0	0	0.00116845	0	0
ARMC2	84071	broad.mit.edu	37	6	109282894	109282894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:109282894G>A	uc003pss.4	+	13	2209	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	ARMC2_uc011eao.2_Missense_Mutation_p.E514K	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	679							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATATATTGCTGAATGTAAGGT	0.353000														105			15		0	0	0.000308642	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674772	78674772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:78674772C>T	uc001jxn.3	-	23	3115	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D872N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D926N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D598N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D771N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D605N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D963N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D922N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D925N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	980					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGGCTGTTATCTGGAGAGGAT	0.463000														101			20		0	0	0.00152264	0	0
OR4C46	119749	broad.mit.edu	37	11	51515533	51515533	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:51515533C>T	uc010ric.2	+	0	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CACATTCACTCTATGGAAAGA	0.478000														122			19		0	0	0.00121646	0	0
NPAS3	64067	broad.mit.edu	37	14	33684575	33684575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:33684575G>A	uc001wru.3	+	2	392	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	NPAS3_uc001wrs.3_Missense_Mutation_p.G80R|NPAS3_uc001wrv.3_Missense_Mutation_p.G80R|NPAS3_uc001wrt.3_Missense_Mutation_p.G80R|NPAS3_uc001wrw.3_Missense_Mutation_p.G8R	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G80R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCTAACCAGGGGGACCCTCC	0.473000														70			14		0	0	0.000219431	0	0
SMAD1	4086	broad.mit.edu	37	4	146461204	146461204	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:146461204C>T	uc003ikc.3	+	2	1065	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	SMAD1_uc003ikd.3_Nonsense_Mutation_p.Q217*|SMAD1_uc010iov.3_Nonsense_Mutation_p.Q217*|SMAD1_uc011cic.2_Nonsense_Mutation_p.Q217*|SMAD1_uc003ikf.3_Non-coding_Transcript	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	217					BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGCCCTTTCCAGATGCCAGG	0.527000														44			16		0	0	0.000295444	0	0
DEPDC1	55635	broad.mit.edu	37	1	68960118	68960118	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:68960118G>A	uc001dem.4	-	1	426	c.309C>T	c.(307-309)ctC>ctT	p.L103L	DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Silent_p.L103L|BC020917_uc001den.3_5'Flank	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	103	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTACCTGAAGAGCTGGTTGT	0.318000														28			4		0	0	0.00024832	0	0
PENK	5179	broad.mit.edu	37	8	57353893	57353893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:57353893C>T	uc003xsz.2	-	1	823	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PENK_uc003xta.3_Missense_Mutation_p.E248K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	248					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.G247G(2)|p.E248K(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAGTAACTTTCGCCTTCTTCG	0.502000														94			59		0	0	0.000781405	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170215	207170215	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:207170215C>T	uc002vbp.2	+	4	1213	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	321							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAAAGGAATCTTTGAAGATA	0.373000														53			15		0	0	0.000308642	0	0
OR5F1	338674	broad.mit.edu	37	11	55761571	55761571	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55761571G>A	uc010riv.2	-	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177L(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGTCACAGAAGAAGTGATGGA	0.473000														97			13		0	0	0.000308642	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995811	57995811	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:57995811G>A	uc010rkd.2	-	0	580	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGAAGTGGTTGATTTCCTGGT	0.642000														30			5		0	0	0.00116845	0	0
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:3274343C>T	uc002cuj.2	-	4	1369	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	ZNF200_uc002cum.3_Missense_Mutation_p.R245Q|ZNF200_uc002cuk.2_Missense_Mutation_p.R246Q|ZNF200_uc010bti.2_Missense_Mutation_p.R245Q|ZNF200_uc002cui.2_Missense_Mutation_p.R245Q|ZNF200_uc002cul.3_Missense_Mutation_p.R245Q	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413000														89			20		0	0	0.00152264	0	0
KIAA0368	23392	broad.mit.edu	37	9	114178582	114178582	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:114178582G>A	uc004bfe.1	-	18	2268	c.2268C>T	c.(2266-2268)gtC>gtT	p.V756V	KIAA0368_uc010muc.1_Silent_p.V578V	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TAAATGGAAGGACAGTGGTCC	0.378000														69			10		0	0	0.000673444	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881316	108881316	+	Silent	SNP	C	T	T	rs150872787		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:108881316C>T	uc010ywo.2	+	5	657	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	219						cytoplasm	alcohol sulfotransferase activity	p.F219F(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TACTGAAGTTCCTGGAAAAAG	0.403000														33			15		0	0	0.000308642	0	0
FLJ31813	326332	broad.mit.edu	37	10	51818942	51818942	+	RNA	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:51818942G>A	uc001jiz.1	-	2		c.1489C>T								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		AGGCCAGTGGGAGGGGGAAGG	0.537000														14			5		0	0	0.000602214	0	0
NUPL1	9818	broad.mit.edu	37	13	25881994	25881994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:25881994C>T	uc001uqi.3	+	1	404	c.158C>T	c.(157-159)cCa>cTa	p.P53L	NUPL1_uc001uqg.1_Missense_Mutation_p.P53L|NUPL1_uc001uqj.3_Missense_Mutation_p.P53L	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	53	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACTTCAACTCCAGCAACTACA	0.428000														103			16		0	0	0.000566183	0	0
TMEM145	284339	broad.mit.edu	37	19	42819392	42819392	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:42819392C>T	uc002otk.1	+	6	610	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	186						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcatcttcttcctctcttGTT	0.537000														56			9		0	0	0.000442599	0	0
SYNE1	23345	broad.mit.edu	37	6	152685982	152685982	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:152685982C>T	uc021zhb.1	-	61	10368	c.10145_splice	c.e61+1	p.S3382_splice	SYNE1_uc003qot.4_Splice_Site_p.S3389_splice|SYNE1_uc003qou.4_Splice_Site_p.S3382_splice|SYNE1_uc010kja.2_Splice_Site_p.S87_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3382					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCCCTCACCTTTTACAACG	0.473000										HNSCC(10;0.0054)				81			7		0	0	0.000157383	0	0
PNMA5	114824	broad.mit.edu	37	X	152159672	152159672	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:152159672C>T	uc022chn.1	-	0	471	c.471G>A	c.(469-471)agG>agA	p.R157R	PNMA5_uc010ntx.3_Silent_p.R157R|PNMA5_uc010ntw.3_Silent_p.R157R|PNMA5_uc004fgy.4_Silent_p.R157R|PNMA5_uc022chm.1_Silent_p.R157R	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	157					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCAGTTTCCTGTACCACA	0.527000														63			38		0	0	0.00128727	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					78			21		0	0	0.000375601	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20811833	20811833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:20811833G>A	uc001bdh.3	-	0	896	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_018584	NP_061054	Q7Z7J9	CK2N1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II inhibitor 1 (CAMK2N1), mRNA.	14						cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		TCGCCGTAGGGGCTCAGCTTC	0.736000														9			4		0	0	0.00116845	0	0
GPC4	2239	broad.mit.edu	37	X	132445423	132445423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:132445423G>A	uc004exc.1	-	3	952	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GPC4_uc011mvg.1_Missense_Mutation_p.A177V	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	247					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CTTCAACAGGGCATGGGTACA	0.468000														50			23		0	0	0.000720815	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834509	101834509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:101834509C>T	uc003knn.3	-	0	212	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	SLCO6A1_uc003kno.3_Missense_Mutation_p.E14K|SLCO6A1_uc003knp.3_Missense_Mutation_p.E14K|SLCO6A1_uc003knq.3_Missense_Mutation_p.E14K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	14						integral to membrane|plasma membrane	transporter activity	p.E14K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTGAGACTTCATCCTGGCTC	0.687000														102			24		0	0	0.00106085	0	0
CYB5R4	51167	broad.mit.edu	37	6	84669579	84669579	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:84669579C>T	uc003pkf.3	+	15	1680	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	516					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AAAATGAGATCCATAGTTTTA	0.303000														29			5		0	0	0.000602214	0	0
CASS4	57091	broad.mit.edu	37	20	55033446	55033446	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:55033446G>A	uc002xxp.2	+	6	2229	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	CASS4_uc010zze.1_Silent_p.R614R|CASS4_uc002xxr.2_Silent_p.R668R|CASS4_uc010gio.2_Silent_p.R231R	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	668					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTCCTGAGAGGAAACCCCGCT	0.527000														52			6		0	0	0.000157383	0	0
GPR141	353345	broad.mit.edu	37	7	37780105	37780105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:37780105C>T	uc003tfm.1	+	0	110	c.110C>T	c.(109-111)tCc>tTc	p.S37F	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTCATTTCCATTCTTTTC	0.498000														75			8		0	0	0.000157383	0	0
C12orf63	374467	broad.mit.edu	37	12	97137626	97137626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:97137626C>T	uc021rcc.1	+	20	2848	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	924										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CAAGGAATCTCCCTCTTCAAA	0.393000														45			14		0	0	0.000219431	0	0
AFM	173	broad.mit.edu	37	4	74364937	74364937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:74364937G>A	uc003hhb.3	+	10	1427	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	466	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACGCTAAGTGAAGAGTTTGC	0.403000														38			8		0	0	0.000274275	0	0
SAP30BP	29115	broad.mit.edu	37	17	73663399	73663399	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:73663399G>A	uc002jpe.3	+	1	1	c.-53_splice	c.e1-1		RECQL5_uc010dgk.3_5'Flank|RECQL5_uc010dgl.3_5'Flank|RECQL5_uc002joz.4_5'Flank|RECQL5_uc002jpa.4_5'Flank|RECQL5_uc002jpb.2_5'Flank|SAP30BP_uc010dgm.1_Splice_Site|SAP30BP_uc010wsf.1_Splice_Site|SAP30BP_uc002jpf.3_Splice_Site|SAP30BP_uc021udb.1_Splice_Site	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	Homo sapiens SAP30 binding protein (SAP30BP), mRNA.						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTCCGCCCGGAAGTCGGCGT	0.597000														8			4		0	0	0.00024832	0	0
APOH	350	broad.mit.edu	37	17	64219823	64219823	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:64219823G>A	uc002jfn.4	-	3	467	c.408C>T	c.(406-408)gtC>gtT	p.V136V		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	136	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TACGAGCACAGACAGGAAGCT	0.473000														76			12		0	0	0.000219431	0	0
NLRP1	22861	broad.mit.edu	37	17	5461922	5461922	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:5461922C>T	uc002gci.3	-	3	2649	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	NLRP1_uc002gcg.1_Silent_p.R698R|NLRP1_uc002gch.4_Silent_p.R698R|NLRP1_uc002gck.3_Silent_p.R698R|NLRP1_uc002gcj.3_Silent_p.R698R|NLRP1_uc002gcl.3_Silent_p.R698R|NLRP1_uc010clh.3_Silent_p.R698R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	698					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCATCAGGTTCCTCCCCTGAG	0.557000														53			12		0	0	0.00136819	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509477	106509477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:106509477G>A	uc003vdv.4	+	1	1556	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	PIK3CG_uc003vdu.3_Missense_Mutation_p.G491R|PIK3CG_uc003vdw.3_Missense_Mutation_p.G491R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	491					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G491E(1)|p.G491V(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCTGGGAAGGGAGAAGACCA	0.483000														53			15		0	0	0.000566183	0	0
CR1	1378	broad.mit.edu	37	1	207680085	207680085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:207680085C>T	uc001hfy.3	+	2	468	c.328C>T	c.(328-330)Cct>Tct	p.P110S	CR1_uc009xcl.1_Missense_Mutation_p.P110S|CR1_uc001hfx.3_Missense_Mutation_p.P110S|CR1_uc021pij.1_Missense_Mutation_p.P110S|CR1_uc010psg.1_Missense_Mutation_p.P110S|CR1_uc009xcj.1_Missense_Mutation_p.P110S|CR1_uc009xck.1_Missense_Mutation_p.P110S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	110	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCTCCAGATCCTGTGAATGG	0.383000														66			10		0	0	0.000978159	0	0
CTC1	80169	broad.mit.edu	37	17	8141515	8141515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:8141515G>A	uc002gkq.4	-	3	540	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	161					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCCAACGGGGGAACAGAAAA	0.527000														37			4		0	0	0.000602214	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261711	19261711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:19261711G>A	uc002wrl.3	+	1	448	c.251G>A	c.(250-252)aGc>aAc	p.S84N	LOC100130264_uc010zsd.1_Intron	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	84						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCGGAACAGCAAGAACTGC	0.537000														40			11		0	0	0.00136819	0	0
HOXA1	3198	broad.mit.edu	37	7	27134177	27134178	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:27134177_27134178GG>AA	uc003sye.3	-	1	983_984	c.889_890CC>TT	c.(889-891)ccg>TTg	p.P297L	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	297						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGGGGTGGCCGGAGAGATGGGC	0.574000														46			10		0	0	6.4e-05	0	0
TMC2	117532	broad.mit.edu	37	20	2575613	2575613	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:2575613C>T	uc002wgf.1	+	9	1091	c.1076_splice	c.e9+1	p.S359_splice	TMC2_uc002wgg.1_Splice_Site_p.S343_splice|TMC2_uc010zpw.1_Splice_Site_p.S191_splice|TMC2_uc010zpx.1_Splice_Site_p.S190_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	359						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCATTCGATCGTAAGTATGA	0.552000														93			8		0	0	0.000274275	0	0
TTC29	83894	broad.mit.edu	37	4	147824778	147824778	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:147824778C>T	uc003ikx.4	-	6	832	c.582G>A	c.(580-582)aaG>aaA	p.K194K	TTC29_uc003ikw.4_Silent_p.K168K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.K168K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	168							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCTGAGCAATCTTAAAACATC	0.428000														28			5		0	0	0.000602214	0	0
HOXB9	3219	broad.mit.edu	37	17	46700464	46700464	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:46700464G>C	uc002inx.3	-	1	755	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	184					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TTTCCGGGAAGAGCGAGCGTG	0.547000														98			10		0	0	0.00136819	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38494448	38494448	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:38494448C>T	uc003auw.3	-	4	462	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	106	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GCTTGGTGTTCTTCTCCATGT	0.602000											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			11		0	0	0.00136819	0	0
GLB1L	79411	broad.mit.edu	37	2	220104817	220104817	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:220104817C>T	uc002vkm.3	-	7	786	c.547_splice	c.e7-1	p.V183_splice	GLB1L_uc002vkk.3_Intron|GLB1L_uc010zkx.2_Intron|GLB1L_uc002vkn.3_Splice_Site_p.V183_splice	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	183					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCTCCACCTGCCAGAGGG	0.537000														35			9		0	0	0.000978159	0	0
VWA7	80737	broad.mit.edu	37	6	31734072	31734072	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:31734072G>A	uc011dog.2	-	14	2512	c.2274C>T	c.(2272-2274)gaC>gaT	p.D758D	VWA7_uc003nxd.2_Silent_p.D433D	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	758						extracellular region											AAGTCCTAAGGTCAAGATCCT	0.612000														169			35		0	0	0.000953801	0	0
RYR2	6262	broad.mit.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:237947421G>A	uc001hyl.1	+	89	12529	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_uc010pya.2_Missense_Mutation_p.E552K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.M4137I(1)|p.E4135K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512000														51			10		0	0	0.000673444	0	0
TLL1	7092	broad.mit.edu	37	4	166976276	166976276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:166976276G>A	uc003irh.2	+	12	2220	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	TLL1_uc011cjn.2_Missense_Mutation_p.G548R|TLL1_uc011cjo.2_Missense_Mutation_p.G349R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	525	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGTTAGAGATGGAACCAGTGA	0.338000														66			16		0	0	0.000958276	0	0
THADA	63892	broad.mit.edu	37	2	43819106	43819106	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:43819106G>A	uc002rsw.4	-	2	508	c.156C>T	c.(154-156)atC>atT	p.I52I	THADA_uc002rsx.4_Silent_p.I52I|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Silent_p.I52I|THADA_uc002rtc.4_Silent_p.I52I|THADA_uc002rtd.3_Silent_p.I52I	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	52							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TAATATAATGGATTTGTGACA	0.323000														214			41		0	0	0.00148497	0	0
FAT3	120114	broad.mit.edu	37	11	92086290	92086290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:92086290C>T	uc001pdj.4	+	0	1029	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	338	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A338T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGAGCTTTCCCTATGGCTA	0.453000										TCGA Ovarian(4;0.039)				385			75		0	0	0.000781405	0	0
CXorf22	170063	broad.mit.edu	37	X	35971731	35971731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:35971731G>A	uc004ddj.3	+	6	1135	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	357										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGTAAAAAGGATATTGGACC	0.333000														34			14		0	0	0.00074312	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906920	158906920	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:158906920A>G	uc001ftb.3	+	1	470	c.220A>G	c.(220-222)Aca>Gca	p.T74A	PYHIN1_uc001fta.4_Missense_Mutation_p.T74A|PYHIN1_uc001ftc.3_Missense_Mutation_p.T74A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T74A|PYHIN1_uc001fte.3_Missense_Mutation_p.T74A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	74	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAATACCAACACTGGGAGA	0.433000														44			8		0	0	0.000274275	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432137	6432137	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:6432137G>A	uc010dus.3	-	1	372	c.286C>T	c.(286-288)Cta>Tta	p.L96L	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	96					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CCTGAGAGTAGAAACTTCCAC	0.612000														34			10		0	0	0.000442599	0	0
ANKRD44	91526	broad.mit.edu	37	2	197964578	197964578	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:197964578C>T	uc021vuj.1	-	9	1255	c.1062G>A	c.(1060-1062)ttG>ttA	p.L354L	ANKRD44_uc002utz.4_Silent_p.L43L|ANKRD44_uc021vuk.1_Silent_p.L329L|ANKRD44_uc002uub.3_Silent_p.L354L|ANKRD44_uc010zgw.2_Silent_p.L282L|ANKRD44_uc002uuc.3_Silent_p.L354L	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	354							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)			AGGTGTTAATCAAAAGCTCAT	0.433000														58			15		0	0	0.000422831	0	0
ZNF98	148198	broad.mit.edu	37	19	22574608	22574608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:22574608G>A	uc002nqt.2	-	3	1551	c.1429C>T	c.(1429-1431)Ctt>Ttt	p.L477F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTTTAGAAAGAGTTGAGGAC	0.368000														52			7		0	0	0.000442599	0	0
CR1	1378	broad.mit.edu	37	1	207680083	207680083	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:207680083A>T	uc001hfy.3	+	2	466	c.326A>T	c.(325-327)gAt>gTt	p.D109V	CR1_uc009xcl.1_Missense_Mutation_p.D109V|CR1_uc001hfx.3_Missense_Mutation_p.D109V|CR1_uc021pij.1_Missense_Mutation_p.D109V|CR1_uc010psg.1_Missense_Mutation_p.D109V|CR1_uc009xcj.1_Missense_Mutation_p.D109V|CR1_uc009xck.1_Missense_Mutation_p.D109V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	109	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATCCTCCAGATCCTGTGAAT	0.388000														65			9		0	0	0.000673444	0	0
DDC	1644	broad.mit.edu	37	7	50611613	50611613	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:50611613G>A	uc003tpg.4	-	1	372	c.171C>T	c.(169-171)atC>atT	p.I57I	DDC_uc022ade.1_Silent_p.I57I|DDC_uc003tpf.4_Silent_p.I57I|DDC_uc022adb.1_Silent_p.I57I|DDC_uc022adc.1_Silent_p.I57I|DDC_uc022add.1_Silent_p.I57I|DDC_uc022adf.1_Silent_p.I57I	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	57					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I56N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAACGTCGTTGATGATGTCCT	0.562000														101			14		0	0	0.000219431	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762690	130762690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:130762690C>T	uc003qcb.3	+	1	3501	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	TMEM200A_uc003qca.3_Missense_Mutation_p.P375S|TMEM200A_uc010kfh.3_Missense_Mutation_p.P375S|TMEM200A_uc010kfi.3_Missense_Mutation_p.P375S|TMEM200A_uc021zfg.1_Missense_Mutation_p.P375S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	375						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCTCTTGTCTCCTGGGGCTGC	0.527000														35			5		0	0	0.000602214	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929442	94929442	+	Silent	SNP	G	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:94929442G>T	uc001ydf.3	-	4	1457	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	SERPINA9_uc001yde.3_Silent_p.P332P|SERPINA9_uc010avc.3_Silent_p.P283P|SERPINA9_uc001ydg.3_Silent_p.P396P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	414					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGGATTTAGTGGGATTTTCCA	0.428000														68			17		1.02788e-11	5.43525e-11	0.000566183	1	0
SPRR2F	6705	broad.mit.edu	37	1	153085186	153085186	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:153085186G>A	uc001fbi.3	-	1	83	c.24C>T	c.(22-24)tgC>tgT	p.C8C	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Silent_p.C8C	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	8					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCTGCTTGCACTGCTGCT	0.562000														102			14		0	0	0.00185496	0	0
KPRP	448834	broad.mit.edu	37	1	152733030	152733030	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:152733030C>T	uc001fal.1	+	1	1024	c.966C>T	c.(964-966)ggC>ggT	p.G322G	KPRP_uc021ozf.1_Silent_p.G322G	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	322	Pro-rich.					cytoplasm		p.R321H(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGACGTGGCCCCAAGTGCC	0.597000														33			5		0	0	0.000602214	0	0
NRF1	4899	broad.mit.edu	37	7	129357144	129357144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:129357144C>T	uc003vpa.3	+	8	1271	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	NRF1_uc003voz.3_Missense_Mutation_p.S384L|NRF1_uc011kpa.2_Missense_Mutation_p.S223L|NRF1_uc003vpb.3_Missense_Mutation_p.S384L	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	384	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCGGTGGCATCGTTGGCAGAG	0.567000														46			22		0	0	0.00047179	0	0
MUC16	94025	broad.mit.edu	37	19	9077420	9077420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9077420C>T	uc002mkp.3	-	2	10230	c.10026G>A	c.(10024-10026)atG>atA	p.M3342I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3343	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G3341*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGAATTCCATTCCAGTTG	0.502000														96			27		0	0	0.000878237	0	0
EPPK1	83481	broad.mit.edu	37	8	144942235	144942235	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:144942235G>A	uc003zaa.1	-	0	5200	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1729						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622000														42			21		0	0	0.000720815	0	0
ZNF225	7768	broad.mit.edu	37	19	44636489	44636489	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:44636489G>A	uc002oyj.1	+	4	1965	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G	ZNF225_uc010ejf.1_Silent_p.G574G	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAGAATGTGGGAAGAGCTTTA	0.428000														56			9		0	0	0.000978159	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954296	32954296	+	Silent	SNP	G	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:32954296G>C	uc002ntg.3	+	12	1545	c.1347G>C	c.(1345-1347)gtG>gtC	p.V449V	DPY19L3_uc002nth.2_Silent_p.V449V|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	449						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACAATCCGTGGGTAAAATGG	0.343000														55			9		0	0	0.000274275	0	0
ARMC3	219681	broad.mit.edu	37	10	23326322	23326322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:23326322G>A	uc001irm.4	+	18	2616	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	ARMC3_uc010qcv.2_Missense_Mutation_p.E838K|ARMC3_uc010qcw.2_Missense_Mutation_p.E582K	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	845							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCCGCTCCTGAGATGTACGT	0.512000														48			15		0	0	0.000422831	0	0
OR1A2	26189	broad.mit.edu	37	17	3101635	3101635	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:3101635A>T	uc002fvd.1	+	0	823	c.823A>T	c.(823-825)Atg>Ttg	p.M275L		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GATAACTGTGATGTATGTGGC	0.438000														116			18		0	0	0.000958276	0	0
ARMC4	55130	broad.mit.edu	37	10	28225697	28225697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:28225697C>T	uc009xky.3	-	14	2308	c.2210G>A	c.(2209-2211)gGg>gAg	p.G737E	ARMC4_uc010qds.2_Missense_Mutation_p.G262E|ARMC4_uc010qdt.2_Missense_Mutation_p.G429E|ARMC4_uc001itz.3_Missense_Mutation_p.G737E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	737							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCATATAGCCCCTGTGACAGC	0.458000														103			23		0	0	0.000375601	0	0
PRIC285	85441	broad.mit.edu	37	20	62193696	62193696	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:62193696G>A	uc002yfm.2	-	9	7234	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	PRIC285_uc002yfl.1_Silent_p.S1545S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2114					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGACCAGCGGGGACGCCTCCT	0.687000														6			4		0	0	0.00024832	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453290	50453290	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:50453290G>A	uc010ybh.2	-	10	2125	c.2034C>T	c.(2032-2034)ccC>ccT	p.P678P	SIGLEC11_uc010ybi.2_Silent_p.P582P	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	678					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGCCCCTCAGGGGCTGTCCTG	0.607000														27			5		0	0	0.000602214	0	0
DYSF	8291	broad.mit.edu	37	2	71801494	71801494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:71801494G>A	uc010fen.3	+	29	3536	c.3395G>A	c.(3394-3396)gGg>gAg	p.G1132E	DYSF_uc010fei.3_Missense_Mutation_p.G1131E|DYSF_uc010feh.3_Missense_Mutation_p.G1100E|DYSF_uc002sig.4_Missense_Mutation_p.G1100E|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.G1145E|DYSF_uc010fee.3_Missense_Mutation_p.G1114E|DYSF_uc010fef.3_Missense_Mutation_p.G1131E|DYSF_uc002sie.3_Missense_Mutation_p.G1114E|DYSF_uc010feo.3_Missense_Mutation_p.G1146E|DYSF_uc010fej.3_Missense_Mutation_p.G1101E|DYSF_uc010fel.3_Missense_Mutation_p.G1101E|DYSF_uc010fem.3_Missense_Mutation_p.G1115E|DYSF_uc002sif.3_Missense_Mutation_p.G1115E|DYSF_uc010fek.3_Missense_Mutation_p.G1132E|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1114						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCCTTGAGGGGGCCCTGGTA	0.642000														37			10		0	0	0.000442599	0	0
CELF5	60680	broad.mit.edu	37	19	3275934	3275934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:3275934G>A	uc002lxm.3	+	3	512	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	CELF5_uc010dtj.2_Missense_Mutation_p.V159I|CELF5_uc002lxl.2_Missense_Mutation_p.V159I|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	159	RRM 2.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCCCTTCGGGGTCATTGACGA	0.697000														17			4		0	0	0.00116845	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560016	44560016	+	Silent	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:44560016A>G	uc002lcr.1	-	0	1973	c.1620T>C	c.(1618-1620)aaT>aaC	p.N540N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	540	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCGTCCGGATTGTTTCTAA	0.602000														75			8		0	0	0.000157383	0	0
DNAH9	1770	broad.mit.edu	37	17	11701013	11701013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:11701013G>A	uc002gne.3	+	42	8391	c.8323G>A	c.(8323-8325)Gaa>Aaa	p.E2775K	DNAH9_uc010coo.3_Missense_Mutation_p.E2069K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2775					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGTCTTGGGAACTTTTGAC	0.493000														42			11		0	0	0.000673444	0	0
ZNF570	148268	broad.mit.edu	37	19	37975975	37975975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:37975975C>T	uc010efl.1	+	5	1738	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	ZNF570_uc002ogk.1_Missense_Mutation_p.S484F|ZNF570_uc010xtr.1_Missense_Mutation_p.S281F	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTGTGGATCCCTTGCCCAA	0.433000														68			10		0	0	0.000442599	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:196602738C>T	uc002utj.4	-	64	12083	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_uc002uti.4_Silent_p.T477T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3994					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACAAAATTCGTGGAATGGC	0.453000														38			11		0	0	0.000978159	0	0
MYBPH	4608	broad.mit.edu	37	1	203143595	203143595	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:203143595G>A	uc001gzh.1	-	2	530	c.471C>T	c.(469-471)gcC>gcT	p.A157A		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	157	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGTCCAGCATGGCCGGCGGGC	0.587000														43			6		0	0	0.000274275	0	0
BLK	640	broad.mit.edu	37	8	11407687	11407688	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:11407687_11407688GG>AA	uc003wty.3	+	5	969_970	c.388_389GG>AA	c.(388-390)ggt>AAt	p.G130N		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	130	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q129H(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TAGATCACAGGGTCGGAAGGAG	0.540000														92			16		0	0	6.4e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091490	17091490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:17091490C>T	uc002nfb.3	-	13	1575	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	468						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAGGCTTCTTCCCCAACCTAT	0.572000														47			11		0	0	0.00136819	0	0
ROBO1	6091	broad.mit.edu	37	3	79639059	79639059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:79639059C>T	uc003dqe.2	-	1	211	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTTTCCATTTCATCTTTGTCC	0.403000														86			22		0	0	0.000586117	0	0
RDH10	157506	broad.mit.edu	37	8	74235016	74235016	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:74235016C>T	uc003xzi.3	+	4	1561	c.873C>T	c.(871-873)cgC>cgT	p.R291R	RDH10_uc003xzj.3_Silent_p.R126R|AK128216_uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	291					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GCACTCCCCGCCTCATGTACA	0.517000														55			20		0	0	0.00188189	0	0
CXXC11	285093	broad.mit.edu	37	2	242814518	242814518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:242814518C>T	uc010fzu.1	+	1	834	c.811C>T	c.(811-813)Cac>Tac	p.H271Y		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	271						integral to membrane											CCCCCTCTTCCACGGCCCCGG	0.672000														46			8		0	0	0.000978159	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686202	4686202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:4686202G>A	uc002fyw.1	+	3	480	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	150						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCGCCCCCTCGCGTGGTCCCC	0.647000														31			6		0	0	0.000442599	0	0
ELP3	55140	broad.mit.edu	37	8	27965461	27965461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:27965461G>A	uc003xgo.4	+	4	509	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ELP3_uc003xgn.4_Missense_Mutation_p.E106K|ELP3_uc011las.2_Intron|ELP3_uc011lat.2_Intron|ELP3_uc011laq.2_Missense_Mutation_p.E49K|ELP3_uc011lar.2_Missense_Mutation_p.E29K	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	121					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTCTGATTTTGAGTATTCCAC	0.423000														43			11		0	0	0.000978159	0	0
TCR-alpha	0	broad.mit.edu	37	14	22433754	22433754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:22433754G>A	uc021rpm.1	+	0	57	c.19G>A	c.(19-21)Gtt>Att	p.V7I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		ATCCTTGAGAGTTTTACTGGT	0.358000														52			20		0	0	0.000720815	0	0
FAM5C	339479	broad.mit.edu	37	1	190067226	190067226	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:190067226C>T	uc001gse.1	-	7	2455	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	FAM5C_uc010pot.1_Silent_p.R639R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	741						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGATTGGATCCTCACCACCT	0.443000														88			22		0	0	0.00152264	0	0
OR5P2	120065	broad.mit.edu	37	11	7817774	7817774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:7817774G>A	uc001mfp.1	-	0	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGAGGTGGGAAGTGCAGGT	0.498000														85			15		0	0	0.000566183	0	0
WDR66	144406	broad.mit.edu	37	12	122396265	122396265	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:122396265G>A	uc009zxk.3	+	11	1977	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	WDR66_uc021rfh.1_Silent_p.K606K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	606							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGAGCCCAAGGATGCCATTT	0.448000														91			16		0	0	0.000308642	0	0
CYLC1	1538	broad.mit.edu	37	X	83128355	83128355	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:83128355C>T	uc004eei.1	+	3	660	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CYLC1_uc004eeh.1_Silent_p.F212F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	213					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACACTGAATTCCTACATACAA	0.303000														15			5		0	0	0.000602214	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79627485	79627485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:79627485C>T	uc003ybd.3	+	7	836	c.734C>T	c.(733-735)cCa>cTa	p.P245L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	245																	AATTCCACACCACCTAGTTTG	0.388000														95			29		0	0	0.001512	0	0
BRAF	673	broad.mit.edu	37	7	140500189	140500190	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:140500189_140500190GG>AA	uc003vwc.4	-	6	1013_1014	c.952_953CC>TT	c.(952-954)cct>TTt	p.P318F		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	318					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGGTGCGGAAGGGGATGATCCA	0.500000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					93			22		0	0	6.4e-05	0	0
RP1	6101	broad.mit.edu	37	8	55539411	55539411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:55539411G>A	uc003xsd.1	+	3	3117	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	990					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E989D(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAAAGAGGGAGATAAGTCT	0.373000														164			21		0	0	0.00188189	0	0
SHANK2	22941	broad.mit.edu	37	11	70331609	70331609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:70331609G>A	uc001oqc.3	-	20	4703	c.4591C>T	c.(4591-4593)Ctc>Ttc	p.L1531F	SHANK2_uc010rqn.2_Missense_Mutation_p.L1007F|SHANK2_uc001opz.3_Missense_Mutation_p.L1002F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1218					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGCTGGAGAACCTTGGCC	0.572000														80			12		0	0	0.000978159	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652070	36652070	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:36652070C>T	uc021yzb.1	+	2	294	c.192C>T	c.(190-192)gcC>gcT	p.A64A	CDKN1A_uc021yzc.1_Silent_p.A64A|CDKN1A_uc011dtq.2_Silent_p.A98A|CDKN1A_uc003omm.4_Silent_p.A64A|CDKN1A_uc003omn.3_Silent_p.A64A	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	64					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.A64fs*25(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GTGACTTCGCCTGGGAGCGTG	0.677000														25			7		0	0	8.12818e-05	0	0
C18orf26	284254	broad.mit.edu	37	18	52265273	52265273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:52265273C>T	uc002lfq.1	+	2	576	c.530C>T	c.(529-531)tCa>tTa	p.S177L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	177	Thr-rich.					integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		ACCACCACTTCAACTGTACCT	0.468000														59			11		0	0	0.000978159	0	0
EDNRA	1909	broad.mit.edu	37	4	148406839	148406839	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:148406839A>C	uc003iky.3	+	1	536	c.6A>C	c.(4-6)gaA>gaC	p.E2D	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Missense_Mutation_p.E2D|EDNRA_uc010ipe.1_Missense_Mutation_p.E2D|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	2					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCAAGATGGAAACCCTTTGCC	0.388000														40			7		0	0	0.000157383	0	0
LAMA2	3908	broad.mit.edu	37	6	129704350	129704350	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:129704350C>T	uc021zfb.1	+	34	5148	c.5043C>T	c.(5041-5043)ttC>ttT	p.F1681F	LAMA2_uc003qbn.3_Silent_p.F1681F|LAMA2_uc003qbo.3_Silent_p.F1681F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1681	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E1680*(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGGAGAATTCATTAAGGAGC	0.458000														66			6		0	0	8.12818e-05	0	0
FLT1	2321	broad.mit.edu	37	13	29005419	29005419	+	Missense_Mutation	SNP	C	T	T	rs55687105		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:29005419C>T	uc001usb.3	-	6	1127	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	FLT1_uc010aar.1_Missense_Mutation_p.R281Q|FLT1_uc001usc.3_Missense_Mutation_p.R281Q|FLT1_uc010tdp.1_Missense_Mutation_p.R281Q	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	281	Ig-like C2-type 3.		R -> Q (in dbSNP:rs55687105).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R281Q(2)		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)	TTGGTCAATTCGTCGCCTTAC	0.343000														88			16		0	0	0.00074312	0	0
RNF17	56163	broad.mit.edu	37	13	25373588	25373588	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:25373588C>T	uc001upr.3	+	11	1496	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	RNF17_uc010tdd.1_Silent_p.I344I|RNF17_uc010tde.2_Silent_p.I485I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.I424I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	485					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAGGAACTATCACAGAATTAA	0.323000														157			17		0	0	0.00152264	0	0
HECA	51696	broad.mit.edu	37	6	139488178	139488178	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:139488178C>T	uc003qin.3	+	1	1314	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	343					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCGTGCAGTTCCTTCGGCGGC	0.602000														47			10		0	0	0.00136819	0	0
STAC3	246329	broad.mit.edu	37	12	57643378	57643378	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:57643378G>A	uc001snp.2	-	1	244	c.42C>T	c.(40-42)ttC>ttT	p.F14F	R3HDM2_uc010srn.1_Non-coding_Transcript|STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Intron|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	14					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCTCTGCTGGGAAGGAGGGCT	0.527000														47			7		0	0	0.000274275	0	0
GABRQ	55879	broad.mit.edu	37	X	151821280	151821280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:151821280C>T	uc004ffp.1	+	8	1455	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	479						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTTTTCCTACCGAAAT	0.542000														58			26		0	0	0.001512	0	0
ANKFN1	162282	broad.mit.edu	37	17	54431374	54431374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:54431374C>T	uc002iun.1	+	4	612	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	193										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCAAGGATTCTTCTGAGGAC	0.468000														51			8		0	0	0.000673444	0	0
OR4X2	119764	broad.mit.edu	37	11	48267210	48267210	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:48267210C>T	uc001ngs.1	+	0	555	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGACACCTTCCTCATTGGTC	0.483000														181			36		0	0	0.000953801	0	0
OR4A15	81328	broad.mit.edu	37	11	55135551	55135551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55135551G>A	uc010rif.2	+	0	192	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAATCTACATGGTGACGATAA	0.418000														58			12		0	0	0.00136819	0	0
FADS2	9415	broad.mit.edu	37	11	61630767	61630767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:61630767C>T	uc001nsl.1	+	8	1144	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	FADS2_uc001nsj.2_Missense_Mutation_p.H310Y|FADS2_uc010rlo.1_Missense_Mutation_p.H301Y|FADS2_uc001nsk.3_Missense_Mutation_p.H332Y	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	332					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCTGGAGAGCCACTGGTTTGT	0.597000														56			9		0	0	0.000673444	0	0
BBX	56987	broad.mit.edu	37	3	107491624	107491624	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:107491624G>A	uc010hpr.3	+	10	1383	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	BBX_uc003dwk.4_Silent_p.K352K|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Silent_p.K373K|BBX_uc003dwm.4_Silent_p.K352K|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGTTACAGAAGGAAGCAGAAT	0.313000														145			40		0	0	0.000781405	0	0
PCDH9	5101	broad.mit.edu	37	13	67205452	67205452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:67205452C>T	uc001vik.3	-	3	3922	c.3230G>A	c.(3229-3231)gGa>gAa	p.G1077E	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.G1043E|PCDH9_uc010thl.2_Intron|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1077					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATCAGGGTTCCACTACCCAC	0.547000														53			9		0	0	0.000673444	0	0
CSMD1	64478	broad.mit.edu	37	8	3216823	3216823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:3216823G>A	uc022aqr.1	-	20	3545	c.3155C>T	c.(3154-3156)gCc>gTc	p.A1052V	CSMD1_uc011kwj.2_Missense_Mutation_p.A445V|CSMD1_uc003wqe.3_Missense_Mutation_p.A209V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1053	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGGCTGAAGGCAGGGACTCC	0.463000														41			7		0	0	0.000157383	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805303	146805303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:146805303G>A	uc003weu.2	+	4	1131	c.615G>A	c.(613-615)atG>atA	p.M205I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	205					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAAGAAGATGAAAACACTGA	0.368000										HNSCC(39;0.1)				79			32		0	0	0.000409698	0	0
TMC5	79838	broad.mit.edu	37	16	19498601	19498601	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:19498601C>T	uc002dgc.4	+	16	3275	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	TMC5_uc010vaq.2_Silent_p.F790F|TMC5_uc002dgb.4_Silent_p.F842F|TMC5_uc010var.2_Silent_p.F842F|TMC5_uc002dgd.1_Silent_p.F596F|TMC5_uc002dge.4_Silent_p.F596F|TMC5_uc002dgf.4_Silent_p.F525F|TMC5_uc002dgg.4_Silent_p.F483F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	842						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGCTCTTTTTCCCATCCTTCA	0.537000														34			4		0	0	0.000602214	0	0
EDC3	80153	broad.mit.edu	37	15	74948195	74948195	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:74948195G>A	uc002ayn.3	-	6	1187	c.699C>T	c.(697-699)tcC>tcT	p.S233S	EDC3_uc002ayo.3_Silent_p.S233S|EDC3_uc002aym.3_Silent_p.S233S	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	233	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGATGCCCCGGGAACGGGTAC	0.502000														72			14		0	0	0.000566183	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035759	86035759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:86035759C>T	uc003ycw.3	+	6	1250	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.P255S|LRRCC1_uc010maa.2_Missense_Mutation_p.P49S|LRRCC1_uc003ycy.3_Missense_Mutation_p.P328S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	348					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAGAAAAGTTCCTCGAAGATC	0.328000														128			44		0	0	0.00195071	0	0
NELL1	4745	broad.mit.edu	37	11	20699480	20699480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:20699480G>A	uc009yid.3	+	2	295	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Missense_Mutation_p.V20M|NELL1_uc001mqf.3_Missense_Mutation_p.V20M|NELL1_uc010rdo.2_Missense_Mutation_p.V20M	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	20					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTTCCAGTGGTGGGCTTTGG	0.502000														59			10		0	0	0.000978159	0	0
SLFN11	91607	broad.mit.edu	37	17	33690204	33690204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:33690204G>A	uc002hjg.4	-	1	870	c.623C>T	c.(622-624)cCt>cTt	p.P208L	SLFN11_uc010ctr.3_Missense_Mutation_p.P208L|SLFN11_uc010ctp.3_Missense_Mutation_p.P208L|SLFN11_uc010ctq.3_Missense_Mutation_p.P208L|SLFN11_uc002hjh.4_Missense_Mutation_p.P208L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	208						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGAGACTCAGGAAAAGGCAG	0.408000														94			23		0	0	0.000375601	0	0
TSSC4	10078	broad.mit.edu	37	11	2423876	2423877	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:2423876_2423877GG>AA	uc021qcg.1	+	0	13_14	c.13_14GG>AA	c.(13-15)gga>AAa	p.G5K	TSSC4_uc001lwi.3_Missense_Mutation_p.G5K|TSSC4_uc001lwk.3_Missense_Mutation_p.G5K|TSSC4_uc001lwl.3_Missense_Mutation_p.G5K	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	5										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGAGGCAGGAACAGGTGAG	0.579000														115			18		0	0	6.4e-05	0	0
RSPH4A	345895	broad.mit.edu	37	6	116937862	116937862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:116937862G>A	uc003pxe.2	+	0	221	c.76G>A	c.(76-78)Gga>Aga	p.G26R	RSPH4A_uc010kee.2_Missense_Mutation_p.G26R	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	26					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCATGGGAAGGAAAGACAGC	0.527000									Kartagener syndrome					23			5		0	0	0.00116845	0	0
TOB2P1	222699	broad.mit.edu	37	6	28186328	28186328	+	RNA	SNP	T	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:28186328T>C	uc011dla.1	-	0		c.380A>G								Homo sapiens transducer of ERBB2, 2 pseudogene 1 (TOB2P1), non-coding RNA.											endometrium(1)	1						GTGGGCTTCTTATTTCTTTTT	0.537000														11			3		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9065737	9065737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9065737G>A	uc002mkp.3	-	2	21913	c.21709C>T	c.(21709-21711)Cag>Tag	p.Q7237*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7239	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTTTCTGAATTCTGCTA	0.468000														169			33		0	0	0.000409698	0	0
MACF1	23499	broad.mit.edu	37	1	39801578	39801578	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:39801578C>T	uc021olw.1	+	0	4638	c.4638C>T	c.(4636-4638)acC>acT	p.T1546T	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3111					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTGTATGACCCCAAGACCTG	0.438000														55			14		0	0	0.000308642	0	0
MYH1	4619	broad.mit.edu	37	17	10401063	10401063	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:10401063C>T	uc002gmo.3	-	30	4447	c.4353G>A	c.(4351-4353)agG>agA	p.R1451R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1451				R -> T (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TATCAAAGTTCCTTTGCTTTT	0.443000														70			13		0	0	0.000308642	0	0
ZNF14	7561	broad.mit.edu	37	19	19822283	19822283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:19822283G>A	uc002nnk.1	-	3	1961	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R603*(4)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGAATTCGAACAGAACTT	0.408000														55			16		0	0	0.000566183	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378106	55378106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:55378106G>A	uc002qhl.4	+	8	1351	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	KIR3DL2_uc002qho.4_Missense_Mutation_p.E430K|KIR3DL2_uc010esh.3_Missense_Mutation_p.E413K			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	430					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CGTGTACACGGAACTTCCAAA	0.527000														193			30		0	0	0.000692331	0	0
PTPRT	11122	broad.mit.edu	37	20	40709572	40709572	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:40709572C>T	uc002xkg.3	-	31	4457	c.4273_splice	c.e31-1	p.E1425_splice	PTPRT_uc010ggj.3_Splice_Site_p.E1444_splice|PTPRT_uc010ggi.3_Splice_Site_p.E628_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1425	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTATACTGTTCCTgagaggcg	0.468000														47			12		0	0	0.00136819	0	0
MECOM	2122	broad.mit.edu	37	3	169099050	169099050	+	Silent	SNP	G	A	A	rs142755875	by1000genomes	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:169099050G>A	uc011bpj.1	-	1	703	c.300C>T	c.(298-300)atC>atT	p.I100I	MECOM_uc003ffl.2_Silent_p.I72I|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.I100I|MECOM_uc011bpl.1_Silent_p.I100I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	100							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCTACTTCGATCTTCCTTT	0.453000														92			12		0	0	0.000978159	0	0
PRRT2	112476	broad.mit.edu	37	16	29825239	29825239	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:29825239C>T	uc002dud.2	+	1	1165	c.864C>T	c.(862-864)ttC>ttT	p.F288F	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Silent_p.F288F|PRRT2_uc002duf.1_Silent_p.F288F|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	288					response to biotic stimulus	integral to membrane		p.F288F(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCGTGGCCTTCGCTTATGCTG	0.607000														52			6		0	0	0.000274275	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130602	117130602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:117130602C>T	uc003pxj.1	-	1	395	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	GPRC6A_uc003pxk.1_Missense_Mutation_p.E125K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E125K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	125					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCCACAGTTTCTCTGGAGCAG	0.438000														70			11		0	0	0.000978159	0	0
LRP2	4036	broad.mit.edu	37	2	170076975	170076975	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:170076975A>C	uc002ues.3	-	33	5850	c.5637T>G	c.(5635-5637)gaT>gaG	p.D1879E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1879					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACGAGCAGGATCAACAGTTA	0.418000														41			9		0	0	0.000442599	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995819	140995819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:140995819G>A	uc004fbt.3	+	3	2953	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E536K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	877							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTAGATGAATATACAAG	0.493000										HNSCC(15;0.026)				98			49		0	0	0.000781405	0	0
OR2T2	401992	broad.mit.edu	37	1	248616437	248616437	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:248616437C>T	uc001iek.1	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGGGAATTCTTCCTGCTGG	0.542000														133			11		0	0	0.00185496	0	0
NAT2	10	broad.mit.edu	37	8	18258334	18258334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:18258334C>T	uc022asl.1	+	0	821	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NAT2_uc003wyw.1_Missense_Mutation_p.S274F	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	274					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTTAAGATTTCCTTGGGGAGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					89			18		0	0	0.00188189	0	0
TRO	7216	broad.mit.edu	37	X	54956310	54956310	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:54956310C>T	uc004dtq.3	+	11	3260	c.3153C>T	c.(3151-3153)ggC>ggT	p.G1051G	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.G582G|TRO_uc004dtw.3_Silent_p.G654G|TRO_uc004dtx.3_Silent_p.G434G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1051	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTTTTGGTGGCTCTCCCAGCA	0.557000														16			9		0	0	0.000442599	0	0
ATG9B	285973	broad.mit.edu	37	7	150720577	150720577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:150720577C>T	uc011kvc.2	-	2	690	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	205					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCCATTCCGCTGGTGGTA	0.632000														8			4		0	0	0.00024832	0	0
PDE1A	5136	broad.mit.edu	37	2	183066287	183066287	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:183066287C>T	uc002uos.3	-	11	1137	c.1053_splice	c.e11-1	p.G351_splice	PDE1A_uc010zfp.1_Splice_Site_p.G247_splice|PDE1A_uc002uoq.1_Splice_Site_p.G351_splice|PDE1A_uc010zfq.1_Splice_Site_p.G351_splice|PDE1A_uc002uor.3_Splice_Site_p.G335_splice|PDE1A_uc002uou.3_Splice_Site_p.G317_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	351	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTGTCAATCCTGTCAAACCA	0.443000														68			13		0	0	0.000422831	0	0
PIGW	284098	broad.mit.edu	37	17	34894104	34894104	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:34894104T>C	uc002hmy.1	+	1	1197	c.1154T>C	c.(1153-1155)cTt>cCt	p.L385P	MYO19_uc010wcy.2_5'Flank|MYO19_uc002hmw.3_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.L385P|PIGW_uc021tvq.1_Missense_Mutation_p.L385P	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class W (PIGW), mRNA.	385					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGATCCTTCTTAGTAGTTTA	0.343000														69			12		0	0	0.000978159	0	0
ZNF536	9745	broad.mit.edu	37	19	31025765	31025765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:31025765G>A	uc002nsu.1	+	2	2320	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	ZNF536_uc010edd.1_Missense_Mutation_p.E728K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	728					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)					CATTGGCGAGGAGGCTGGGAG	0.552000														156			24		0	0	0.00047179	0	0
OR4K5	79317	broad.mit.edu	37	14	20389533	20389533	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20389533C>T	uc010tkw.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I255T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCATCTTCATCTATGTGT	0.398000														222			29		0	0	0.00127121	0	0
WRAP53	55135	broad.mit.edu	37	17	7605081	7605081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:7605081G>A	uc010vuh.2	+	6	1084	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	WRAP53_uc010vui.2_Missense_Mutation_p.R310Q|WRAP53_uc002gip.3_Missense_Mutation_p.R310Q|WRAP53_uc002gir.3_Missense_Mutation_p.R310Q|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.R277Q|WRAP53_uc010vuj.2_Missense_Mutation_p.R91Q	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	310					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CGGCCTGGCCGAGACTGCGAG	0.627000														21			5		0	0	0.00116845	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:41306689C>T	uc002xkg.3	-	6	1154	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_uc010ggj.3_Missense_Mutation_p.E324K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000														65			14		0	0	0.000422831	0	0
CSMD2	114784	broad.mit.edu	37	1	34192215	34192215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:34192215C>T	uc001bxm.1	-	15	2617	c.2440G>A	c.(2440-2442)Gat>Aat	p.D814N	CSMD2_uc001bxn.1_Missense_Mutation_p.D774N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	774	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCAAGGCATCCTTGTAGAAG	0.617000														28			7		0	0	8.12818e-05	0	0
CILP2	148113	broad.mit.edu	37	19	19655900	19655900	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:19655900A>T	uc002nmw.4	+	7	2649	c.2564A>T	c.(2563-2565)cAc>cTc	p.H855L	CILP2_uc002nmv.4_Missense_Mutation_p.H849L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	849						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGACGGACCACGACGATCCC	0.706000														29			4		0	0	0.000602214	0	0
DNAH7	56171	broad.mit.edu	37	2	196602645	196602645	+	Nonstop_Mutation	SNP	T	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:196602645T>G	uc002utj.4	-	64	12176	c.12075A>C	c.(12073-12075)taA>taC	p.*4025Y	DNAH7_uc002uti.4_Nonstop_Mutation_p.*508Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	0					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGTCTTCTGGTTATGAATTAA	0.373000														29			8		0	0	0.000673444	0	0
CTCFL	140690	broad.mit.edu	37	20	56063911	56063911	+	RNA	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:56063911C>T	uc010giu.3	-	3		c.772G>A			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCAAATTTTCCTTTCTCTTT	0.418000														131			27		0	0	0.000720815	0	0
COL1A1	1277	broad.mit.edu	37	17	48271395	48271395	+	Missense_Mutation	SNP	G	A	A	rs74315120		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:48271395G>A	uc002iqm.3	-	24	1802	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	559	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATCTTGACCGGCGGGACCCTA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							56			10		0	0	0.00136819	0	0
NTNG1	22854	broad.mit.edu	37	1	107867110	107867110	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:107867110C>T	uc001dvh.4	+	2	1171	c.453C>T	c.(451-453)acC>acT	p.T151T	NTNG1_uc001dvc.4_Silent_p.T151T|NTNG1_uc010out.2_Silent_p.T151T|NTNG1_uc001dvf.4_Silent_p.T151T|NTNG1_uc001dvd.1_Silent_p.T151T	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	151	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TAGTTATTACCTTTGAATCTG	0.468000														63			13		0	0	0.00185496	0	0
PGK2	5232	broad.mit.edu	37	6	49754181	49754181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:49754181C>T	uc003ozu.3	-	0	873	c.720G>A	c.(718-720)atG>atA	p.M240I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	240					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGTATAAGCCATTCCACCAC	0.428000														115			13		0	0	0.000308642	0	0
HOXB9	3219	broad.mit.edu	37	17	46700460	46700460	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:46700460G>A	uc002inx.3	-	1	759	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	185					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCTTTTTCCGGGAAGAGCGAG	0.547000														99			11		0	0	0.00185496	0	0
MYH14	79784	broad.mit.edu	37	19	50774791	50774791	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:50774791C>T	uc010enu.1	+	24	3206	c.3159C>T	c.(3157-3159)tcC>tcT	p.S1053S	MYH14_uc002prq.1_Silent_p.S1020S|MYH14_uc002prr.1_Silent_p.S1012S	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1012					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACCAGAATTCCAAGCTGAGCA	0.552000														9			3		0	0	0.00024832	0	0
DMXL2	23312	broad.mit.edu	37	15	51791364	51791364	+	Silent	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:51791364A>G	uc010ufy.2	-	17	4282	c.4057T>C	c.(4057-4059)Tta>Cta	p.L1353L	DMXL2_uc002abf.3_Silent_p.L1353L|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1353						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCAATTCTAACAGCTGAGTT	0.393000														61			15		0	0	0.000219431	0	0
CYLC2	1539	broad.mit.edu	37	9	105767754	105767754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:105767754G>A	uc004bbs.2	+	4	911	c.841G>A	c.(841-843)Gac>Aac	p.D281N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	281	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D281E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAGTAGTACAGACAGTGACTC	0.388000														28			4		0	0	0.00024832	0	0
OR5M10	390167	broad.mit.edu	37	11	56345140	56345140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:56345140C>T	uc001niz.1	-	0	58	c.58G>A	c.(58-60)Gac>Aac	p.D20N	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGCACTGGGTCGTCTGTCAGT	0.458000														82			11		0	0	0.000978159	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751364	19751364	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:19751364C>T	uc009zzj.3	-	3	864	c.759G>A	c.(757-759)acG>acA	p.T253T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T253T(4)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTGGAATTCCGTCAAGTCCA	0.612000														59			14		0	0	0.000308642	0	0
CDH20	28316	broad.mit.edu	37	18	59221488	59221488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:59221488G>A	uc010dps.1	+	10	2118	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CDH20_uc002lif.2_Missense_Mutation_p.E650K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	656					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E656Q(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGACGACGAGGAAAACATCCA	0.587000														93			22		0	0	0.00106085	0	0
GPR112	139378	broad.mit.edu	37	X	135431858	135431858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:135431858G>A	uc004ezu.1	+	5	6284	c.5993G>A	c.(5992-5994)gGa>gAa	p.G1998E	GPR112_uc010nsb.1_Missense_Mutation_p.G1793E|GPR112_uc010nsc.1_Missense_Mutation_p.G1765E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1998					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCCACTTCAGGATCTGTAATT	0.463000														46			32		0	0	0.000409698	0	0
CALCR	799	broad.mit.edu	37	7	93101751	93101751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:93101751G>A	uc003umv.2	-	6	719	c.419C>T	c.(418-420)cCt>cTt	p.P140L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P122L|CALCR_uc003umw.2_Missense_Mutation_p.P122L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	122					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATTGTTTTCAGGATGTTTAAA	0.343000														93			14		0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9059445	9059445	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9059445G>T	uc002mkp.3	-	2	28205	c.28001C>A	c.(28000-28002)cCa>cAa	p.P9334Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9336	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAGGGCCTGGGATGGATGT	0.493000														90			19		3.62473e-10	1.91202e-09	0.00188189	1	0
NLRC4	58484	broad.mit.edu	37	2	32475631	32475632	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:32475631_32475632CC>TT	uc002roi.3	-	3	1562_1563	c.1301_1302GG>AA	c.(1300-1302)agg>aAA	p.R434K	NLRC4_uc021vfq.1_Missense_Mutation_p.R434K|NLRC4_uc002roj.2_Missense_Mutation_p.R434K|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	434	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGGCTTGAACCTTTGAGCTGT	0.460000														35			10		0	0	6.4e-05	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371161	143371161	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:143371161C>G	uc003evn.3	-	5	900	c.691G>C	c.(691-693)Gac>Cac	p.D231H	SLC9A9_uc011bnk.2_Missense_Mutation_p.D105H	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	231					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GTGTACAGGTCAGGGTCGACG	0.458000														11			3		0	0	6.4e-05	0	0
FBXO22	26263	broad.mit.edu	37	15	76225310	76225310	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:76225310A>C	uc002bbk.3	+	6	1184	c.1079A>C	c.(1078-1080)aAt>aCt	p.N360T	FBXO22_uc002bbl.3_Missense_Mutation_p.N256T|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	360					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTCTTTGGAAATGGAGAAATT	0.388000														100			24		0	0	0.000878237	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201765	21201765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:21201765G>A	uc002gys.3	+	1	355	c.90G>A	c.(88-90)atG>atA	p.M30I	MAP2K3_uc002gyt.3_Missense_Mutation_p.M1I|MAP2K3_uc021tsq.1_Missense_Mutation_p.M1I|MAP2K3_uc021tsr.1_Missense_Mutation_p.M1I	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	30					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TATCCTGCATGTCCAAGCCAC	0.552000														170			16		0	0	0.00074312	0	0
CELSR1	9620	broad.mit.edu	37	22	46832145	46832145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:46832145C>T	uc003bhw.1	-	3	4448	c.4448G>A	c.(4447-4449)gGc>gAc	p.G1483D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1483	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.N1482S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGAAGCGGCCGTTGTAGAG	0.592000														45			8		0	0	0.000442599	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247165	142247165	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:142247165C>T	uc003vyd.4	-	1	316	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCGCTGGATCTTCAGAGTAG	0.552000														42			19		0	0	0.00121646	0	0
LCTL	197021	broad.mit.edu	37	15	66850213	66850213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:66850213C>T	uc002aqc.3	-	7	901	c.769G>A	c.(769-771)Gga>Aga	p.G257R	LCTL_uc002aqd.4_Missense_Mutation_p.G84R|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	257					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAAATTCCCACCAGACCT	0.532000														110			19		0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179600567	179600567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179600567G>A	uc021vsy.1	-	46	11099	c.10874C>T	c.(10873-10875)gCt>gTt	p.A3625V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A286V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4552	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H3625R(1)		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)			CTTGTTGGAAGCCTTACAAGA	0.403000														45			7		0	0	8.12818e-05	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881390	94881390	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:94881390C>T	uc003unp.3	+	10	2829	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PPP1R9A_uc010lfj.3_Silent_p.T871T|PPP1R9A_uc011kif.2_Silent_p.T849T|PPP1R9A_uc003unq.3_Silent_p.T849T|PPP1R9A_uc011kig.2_Silent_p.T849T	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	849	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGGGGATACCATGGAGAACT	0.388000										HNSCC(28;0.073)				39			4		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179489236	179489236	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179489236C>G	uc021vsy.1	-	190	37292	c.37067G>C	c.(37066-37068)tGt>tCt	p.C12356S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C6051S|TTN_uc021vta.1_Missense_Mutation_p.C5984S|TTN_uc021vtb.1_Missense_Mutation_p.C5859S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13283							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)			CTTAGCATCACAAGTGTATGT	0.353000														94			16		0	0	0.000566183	0	0
HECW1	23072	broad.mit.edu	37	7	43484933	43484933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:43484933C>T	uc003tid.1	+	10	2767	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	HECW1_uc011kbi.1_Missense_Mutation_p.S721F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	721					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGCTTCTCCTCCGTGGACAGC	0.622000														38			18		0	0	0.00074312	0	0
C20orf79	140856	broad.mit.edu	37	20	18794707	18794707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:18794707G>A	uc002wrk.3	+	0	338	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	83	SCP2.						sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						ACCATTTTGCGGTGGACCATT	0.493000														67			14		0	0	0.000422831	0	0
AGT	183	broad.mit.edu	37	1	230839065	230839065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:230839065C>T	uc001hty.4	-	4	1788	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	AGT_uc009xff.3_Missense_Mutation_p.S399N	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	427					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AAAAAAAATGCTGTTCAGCAC	0.572000														39			8		0	0	0.000442599	0	0
NOMO3	408050	broad.mit.edu	37	16	16355470	16355470	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:16355470C>T	uc002dep.3	+	11	1467	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	NOMO3_uc010bvp.2_Silent_p.T277T|NOMO3_uc002deq.3_Silent_p.T444T	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	Homo sapiens NODAL modulator 3 (NOMO3), mRNA.	444						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTTGGTCACCGTGGAGACAG	0.408000														97			22		0	0	0.00106085	0	0
FILIP1	27145	broad.mit.edu	37	6	76063289	76063289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:76063289C>T	uc010kbe.3	-	4	1134	c.604G>A	c.(604-606)Gac>Aac	p.D202N	FILIP1_uc003phy.1_Missense_Mutation_p.D199N|FILIP1_uc003phz.3_Missense_Mutation_p.D100N|FILIP1_uc003pia.3_Missense_Mutation_p.D199N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	199										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGGTGAAGTCGTCGCTCTTG	0.537000														129			18		0	0	0.000958276	0	0
RPL23AP82	284942	broad.mit.edu	37	22	51237496	51237496	+	RNA	SNP	C	T	T	rs145825199	byFrequency	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:51237496C>T	uc003bni.3	+	3		c.951C>T			RPL23AP82_uc003bns.3_Non-coding_Transcript|RPL23AP82_uc010hbj.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 82 (RPL23AP82), transcript variant 1, non-coding RNA.									p.R98*(1)		lung(1)	1						GGCATATGTTCGACTTGCTCC	0.433000														100			23		0	0	0.000295444	0	0
DMGDH	29958	broad.mit.edu	37	5	78347223	78347223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:78347223G>A	uc003kfs.3	-	4	638	c.632C>T	c.(631-633)gCc>gTc	p.A211V	DMGDH_uc011cte.1_Missense_Mutation_p.A61V|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	211					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTAAAAGGGCACCACATTT	0.433000														98			20		0	0	0.000958276	0	0
CDC27	996	broad.mit.edu	37	17	45201273	45201273	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:45201273G>A	uc002ile.4	-	16	2359	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	CDC27_uc002ild.4_Silent_p.L738L|CDC27_uc002ilf.4_Silent_p.L737L|CDC27_uc010wkp.2_Silent_p.L677L|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	738					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.G744R(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGAAGTAAACGAGGGATTCTT	0.313000														95			14		0	0	0.000422831	0	0
XYLT1	64131	broad.mit.edu	37	16	17235110	17235110	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:17235110A>T	uc002dfa.3	-	6	1572	c.1487T>A	c.(1486-1488)tTc>tAc	p.F496Y		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	496					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTCAGCAGGAACCAGTCCGA	0.577000														124			22		0	0	0.000295444	0	0
CDCP1	64866	broad.mit.edu	37	3	45132840	45132840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:45132840C>T	uc003com.3	-	6	1953	c.1818G>A	c.(1816-1818)atG>atA	p.M606I		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	606						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCTGGATGATCATGAATGCGC	0.602000														41			11		0	0	0.000673444	0	0
OR2M4	26245	broad.mit.edu	37	1	248403001	248403001	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:248403001C>T	uc010pzh.2	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTATGTTCATGTACATGA	0.522000														46			10		0	0	0.00185496	0	0
CSMD1	64478	broad.mit.edu	37	8	3256965	3256965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:3256965C>T	uc022aqr.1	-	15	2743	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	CSMD1_uc011kwj.2_Missense_Mutation_p.E178K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	786	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTATCCATTCACAATGTAAA	0.408000														100			11		0	0	0.000978159	0	0
GBA3	57733	broad.mit.edu	37	4	22749662	22749662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:22749662G>A	uc003gqp.4	+	2	1121	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.D345N	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	344					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAAAATGTGGATTGGATCTA	0.373000														32			7		0	0	0.000157383	0	0
TG	7038	broad.mit.edu	37	8	134125827	134125827	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:134125827G>A	uc003ytw.3	+	43	7775	c.7734G>A	c.(7732-7734)cgG>cgA	p.R2578R	TG_uc010mdw.3_Silent_p.R1337R|TG_uc011ljb.2_Silent_p.R947R|TG_uc011ljc.2_Silent_p.R711R	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2578					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R2578R(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTCTCCCGGGCTCTGGAGA	0.547000														8			7		0	0	0.000157383	0	0
SHROOM2	357	broad.mit.edu	37	X	9863304	9863304	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:9863304C>A	uc004csu.1	+	3	1446	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	452					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTGCCAGCTTCCAGAACGACA	0.672000														37			5		0.00116845	0.0060748	0.00116845	1	0
CTSE	1510	broad.mit.edu	37	1	206327476	206327476	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:206327476A>G	uc001hdu.3	+	5	783	c.665A>G	c.(664-666)aAc>aGc	p.N222S	CTSE_uc001hdv.3_Missense_Mutation_p.N222S|CTSE_uc010prs.2_Missense_Mutation_p.N147S	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	227					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCATGTAGTAACCCAGAAGGT	0.537000														127			24		0	0	0.000878237	0	0
PXDNL	137902	broad.mit.edu	37	8	52336259	52336259	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:52336259G>A	uc003xqu.4	-	13	1772	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	557	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCACATGGAATTTACCAC	0.433000														39			14		0	0	0.000308642	0	0
TTLL5	23093	broad.mit.edu	37	14	76156614	76156614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:76156614C>T	uc010ask.2	+	5	726	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	TTLL5_uc001xrw.2_Missense_Mutation_p.H151Y|TTLL5_uc001xrx.3_Missense_Mutation_p.H151Y	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	151	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAGGCTTTTCACATCCTCCC	0.463000														52			11		0	0	0.000978159	0	0
CPNE5	57699	broad.mit.edu	37	6	36759867	36759867	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:36759867G>A	uc003omr.1	-	7	538	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CPNE5_uc003oms.1_Silent_p.V136V	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	157	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTTTCCTGGGACACCACTGG	0.567000														49			13		0	0	0.000422831	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465016	50465016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:50465016G>A	uc001vdk.2	+	0	472	c.290G>A	c.(289-291)aGc>aAc	p.S97N						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GAAAAATTTAGCCTTGTTCAA	0.423000														78			8		0	0	0.000157383	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:93615439G>A	uc003drb.4	-	8	1287	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_uc010hoo.3_Missense_Mutation_p.R185C|PROS1_uc003dqz.4_Missense_Mutation_p.R185C	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000														106			25		0	0	0.00106085	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:58207172G>A	uc010rkh.2	-	0	475	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000														96			14		0	0	0.000219431	0	0
GLRB	2743	broad.mit.edu	37	4	158091772	158091772	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:158091772G>A	uc003ipj.2	+	9	1588	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	GLRB_uc021xtp.1_3'UTR|GLRB_uc021xtq.1_Silent_p.A462A	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	462					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTCCCCCTGCGAAACCTGTTA	0.383000														74			19		0	0	0.00121646	0	0
PARP2	10038	broad.mit.edu	37	14	20815040	20815040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20815040G>A	uc001vxc.3	+	3	359	c.331G>A	c.(331-333)Gga>Aga	p.G111R	PARP2_uc001vxb.1_Missense_Mutation_p.G111R|PARP2_uc001vxd.3_Missense_Mutation_p.G98R	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	111					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTATTGTGAAGGAAATGATGT	0.363000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						94			14		0	0	0.000308642	0	0
PCF11	51585	broad.mit.edu	37	11	82868661	82868661	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:82868661C>T	uc001ozx.4	+	0	525	c.180C>T	c.(178-180)gcC>gcT	p.A60A	PCF11_uc010rsu.1_Silent_p.A60A	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	60	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCATCGAGGCCCAAACCGCCA	0.512000														96			10		0	0	0.000978159	0	0
AMPD1	270	broad.mit.edu	37	1	115231288	115231288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:115231288C>T	uc001efe.2	-	2	256	c.208G>A	c.(208-210)Gag>Aag	p.E70K	AMPD1_uc001eff.2_Missense_Mutation_p.E66K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	37					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGGAAATCTCCTGACGACCT	0.433000														76			24		0	0	0.00047179	0	0
DSCAM	1826	broad.mit.edu	37	21	41385159	41385159	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:41385159C>T	uc002yyq.1	-	32	6293	c.5841G>A	c.(5839-5841)ccG>ccA	p.P1947P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1947				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P1947P(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGCTTCCATCGGGATGGGCT	0.657000														34			9		0	0	0.000442599	0	0
PDE1B	5153	broad.mit.edu	37	12	54971043	54971043	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:54971043C>T	uc001sgd.2	+	14	1935	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	PDE1B_uc010soz.2_Silent_p.S377S|PDE1B_uc010spa.1_Silent_p.S473S|PDE1B_uc001sge.3_Silent_p.S494S|PDE1B_uc001sgf.3_Silent_p.S377S|PDE1B_uc009znq.3_Silent_p.S310S	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	514					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ACGAGCTGTCCCCCTGTGAAG	0.557000														98			13		0	0	0.000308642	0	0
TSPAN16	26526	broad.mit.edu	37	19	11406992	11406992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:11406992C>T	uc002mqv.1	+	0	169	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	7						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AATCCACACTCCGTATTCTTC	0.473000														70			12		0	0	0.00136819	0	0
VPS13A	23230	broad.mit.edu	37	9	79898328	79898328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:79898328C>T	uc004akr.3	+	29	3436	c.3176C>T	c.(3175-3177)tCg>tTg	p.S1059L	VPS13A_uc004akp.4_Missense_Mutation_p.S1059L|VPS13A_uc004akq.4_Missense_Mutation_p.S1059L|VPS13A_uc004aks.3_Intron	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1059					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGAATTATCGTGTTTACAG	0.239000														46			13		0	0	0.00136819	0	0
C16orf89	146556	broad.mit.edu	37	16	5110293	5110293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:5110293C>T	uc010bud.3	-	2	740	c.503G>A	c.(502-504)gGa>gAa	p.G168E	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.G168E	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	168						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCACCCGGTTCCCAGCAGCTG	0.607000														48			8		0	0	0.000274275	0	0
PAGE3	139793	broad.mit.edu	37	X	55290330	55290330	+	RNA	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:55290330C>T	uc022bxs.1	-	1		c.202G>A			PAGE3_uc011mon.2_Non-coding_Transcript					Homo sapiens P antigen family, member 3 (prostate associated) (PAGE3), non-coding RNA.											endometrium(1)|kidney(1)|lung(1)	3						CTTTGATGTCCACTCATGTTT	0.373000														21			6		0	0	0.00116845	0	0
NTF3	4908	broad.mit.edu	37	12	5603651	5603651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:5603651G>A	uc001qnl.4	+	0	354	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	NTF3_uc001qnk.4_Missense_Mutation_p.E104K	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	91					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.T90A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AATGGACACCGAACTGCTGCG	0.617000														48			9		0	0	0.000274275	0	0
OR4K1	79544	broad.mit.edu	37	14	20404433	20404433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20404433G>A	uc001vwj.2	+	0	667	c.608G>A	c.(607-609)aGt>aAt	p.S203N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTAACGAACAGTGGCCTGATA	0.453000														115			14		0	0	0.000308642	0	0
OR4C6	219432	broad.mit.edu	37	11	55433174	55433174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55433174G>A	uc010rik.2	+	0	532	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTTTATATGTGATTTGTTTCA	0.448000														75			13		0	0	0.00185496	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995392	140995392	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:140995392G>A	uc004fbt.3	+	3	2526	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.E393E	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	734							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGGGGAGGACTTCCAGT	0.547000										HNSCC(15;0.026)				69			29		0	0	0.00178596	0	0
ADAM2	2515	broad.mit.edu	37	8	39606852	39606852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:39606852C>T	uc003xnj.3	-	17	2068	c.1993G>A	c.(1993-1995)Gct>Act	p.A665T	ADAM2_uc003xnk.3_Missense_Mutation_p.A646T|ADAM2_uc011lck.2_Missense_Mutation_p.A602T|ADAM2_uc003xnl.3_Missense_Mutation_p.A509T	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	665					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTGGTATAGCTACAGGTGGA	0.343000														79			32		0	0	0.00058488	0	0
ADCY8	114	broad.mit.edu	37	8	132051911	132051911	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:132051911C>T	uc003ytd.4	-	0	925	c.669G>A	c.(667-669)gaG>gaA	p.E223E	ADCY8_uc010mds.3_Silent_p.E223E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	223					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.E223K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATCACTACCTCAATGCCGG	0.617000										HNSCC(32;0.087)				21			6		0	0	0.00116845	0	0
BCL11A	53335	broad.mit.edu	37	2	60773118	60773118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:60773118C>T	uc002sae.1	-	1	601	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BCL11A_uc002sab.3_Missense_Mutation_p.E125K|BCL11A_uc002sac.3_Missense_Mutation_p.E125K|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.E125K|BCL11A_uc002saf.1_Missense_Mutation_p.E125K|BCL11A_uc010fcg.3_Missense_Mutation_p.E125K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	125	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCTATGTGTTCCTGTTTGGGG	0.443000			T	IGH@	B-CLL									290			69		0	0	0.000781405	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189177	26189177	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:26189177C>A	uc003ngu.3	-	0	128	c.128G>T	c.(127-129)gGc>gTc	p.G43V		NM_003539	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4d (HIST1H4D), mRNA.	43					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ACGCTTGACGCCGCCGCGGCG	0.552000														37			14		9.31168e-06	4.88807e-05	0.00185496	1	0
LAMA1	284217	broad.mit.edu	37	18	6977880	6977880	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:6977880G>A	uc002knm.3	-	44	6285	c.6191_splice	c.e44-1	p.T2064_splice	LAMA1_uc010wzj.2_Splice_Site_p.T1540_splice	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2064	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAACAGAGCTAACAAATA	0.408000														31			7		0	0	8.12818e-05	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994421	140994421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:140994421C>T	uc004fbt.3	+	3	1555	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P70S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	411							protein binding	p.P411T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCTATGACCTC	0.478000										HNSCC(15;0.026)				77			49		0	0	0.000781405	0	0
RASSF3	283349	broad.mit.edu	37	12	65004498	65004498	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:65004498A>G	uc001ssd.3	+	0	206	c.86A>G	c.(85-87)cAg>cGg	p.Q29R	RASSF3_uc009zqn.3_Non-coding_Transcript	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 3 (RASSF3), transcript variant 1, mRNA.	29					signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AGAGCGCCCCAGGGCAAGCCC	0.721000														28			4		0	0	0.00116845	0	0
BTNL2	56244	broad.mit.edu	37	6	32362724	32362724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:32362724C>T	uc003obg.1	-	5	1157	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*	BTNL2_uc010jty.1_Nonsense_Mutation_p.W109*|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Nonsense_Mutation_p.W176*	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	386						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTGTGGGAACCACCCATCTGA	0.572000														138			17		0	0	0.00152264	0	0
ILDR2	387597	broad.mit.edu	37	1	166926005	166926005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:166926005C>T	uc001gdx.2	-	2	520	c.464G>A	c.(463-465)gGg>gAg	p.G155E		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTCATTTTTCCCCTCCAGGTC	0.443000														70			14		0	0	0.00185496	0	0
ENTPD2	954	broad.mit.edu	37	9	139945549	139945549	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:139945549C>T	uc004ckw.2	-	4	633	c.579G>A	c.(577-579)cgG>cgA	p.R193R	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.R193R	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	193						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTCCCCTTCCGTGGCCGGA	0.677000														36			6		0	0	0.00116845	0	0
RIT1	6016	broad.mit.edu	37	1	155874167	155874167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:155874167G>A	uc001fmh.1	-	4	551	c.364C>T	c.(364-366)Cga>Tga	p.R122*	RIT1_uc010pgr.1_Nonsense_Mutation_p.R86*	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	122					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.R122L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCAGTACGTCGGACTCGATAA	0.418000														60			8		0	0	0.000274275	0	0
COL7A1	1294	broad.mit.edu	37	3	48623609	48623609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:48623609C>T	uc003ctz.2	-	26	3622	c.3621G>A	c.(3619-3621)atG>atA	p.M1207I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1207	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACAGAGTCCATACCCGGCG	0.602000														66			18		0	0	0.000566183	0	0
SPTB	6710	broad.mit.edu	37	14	65241884	65241884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:65241884C>T	uc001xht.3	-	21	4852	c.4801G>A	c.(4801-4803)Ggc>Agc	p.G1601S	SPTB_uc001xhr.3_Missense_Mutation_p.G1601S|SPTB_uc001xhs.3_Missense_Mutation_p.G1601S|SPTB_uc001xhu.3_Missense_Mutation_p.G1601S|SPTB_uc010aqi.3_Missense_Mutation_p.G262S	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1601					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTGCTCGCCAATCCAGGCC	0.637000														66			12		0	0	0.00185496	0	0
BTAF1	9044	broad.mit.edu	37	10	93753466	93753466	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:93753466C>T	uc001khr.3	+	21	3159	c.3061C>T	c.(3061-3063)Ctg>Ttg	p.L1021L	BTAF1_uc001kht.1_Silent_p.L459L	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1021					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGCCTTACCTGGTACAACG	0.338000														33			6		0	0	0.000274275	0	0
abParts	0	broad.mit.edu	37	14	107283032	107283032	+	RNA	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:107283032C>T	uc021ser.1	-	0		c.54G>A								Parts of antibodies, mostly variable regions.																		AGGAGACCTTCACTGAGGCCC	0.572000														87			17		0	0	0.000958276	0	0
OR4M1	441670	broad.mit.edu	37	14	20248894	20248894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20248894G>A	uc010tku.2	+	0	413	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	138					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)		ATCATGAATCGACGTCTCTGC	0.522000														258			29		0	0	0.00178596	0	0
DMBT1	1755	broad.mit.edu	37	10	124339202	124339202	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:124339202G>T	uc001lgk.1	+	9	894	c.788G>T	c.(787-789)tGg>tTg	p.W263L	DMBT1_uc001lgl.1_Missense_Mutation_p.W263L|DMBT1_uc001lgm.1_Missense_Mutation_p.W263L|DMBT1_uc021qaf.1_Missense_Mutation_p.W263L|DMBT1_uc021qag.1_Missense_Mutation_p.W263L|DMBT1_uc021qah.1_Missense_Mutation_p.W263L|DMBT1_uc009xzz.1_Missense_Mutation_p.W263L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.W115L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	263	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.W263*(1)|p.W263R(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGACTACTGGGACACCAAT	0.612000														220			12		0.000308642	0.0016085	0.000308642	1	0
ABCA8	10351	broad.mit.edu	37	17	66937058	66937058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:66937058G>A	uc002jhq.3	-	3	482	c.142C>T	c.(142-144)Cct>Tct	p.P48S	ABCA8_uc002jhp.3_Missense_Mutation_p.P48S|ABCA8_uc010wqq.2_Missense_Mutation_p.P48S|ABCA8_uc010wqr.2_5'UTR|ABCA8_uc002jhr.3_Missense_Mutation_p.P48S|ABCA8_uc002jhs.3_Missense_Mutation_p.P48S|ABCA8_uc002jht.3_Missense_Mutation_p.P48S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	48						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGACTATGAGGATATATATAC	0.323000														50			8		0	0	0.000673444	0	0
NRG2	9542	broad.mit.edu	37	5	139232060	139232060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:139232060G>A	uc003lev.2	-	8	1755	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NRG2_uc003lew.2_Missense_Mutation_p.P503S|NRG2_uc003lex.2_Missense_Mutation_p.P501S|NRG2_uc003ley.2_Missense_Mutation_p.P495S|NRG2_uc021yed.1_Missense_Mutation_p.P435S	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	501					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAGAAGGAGAACAGGAG	0.532000														55			13		0	0	0.000219431	0	0
TNS3	64759	broad.mit.edu	37	7	47336690	47336690	+	Silent	SNP	C	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:47336690C>G	uc003tnw.3	-	23	4024	c.3666G>C	c.(3664-3666)ctG>ctC	p.L1222L	TNS3_uc022acn.1_Silent_p.L779L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1222	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTTCTTGTTCAGCTGCAGGA	0.488000														105			17		0	0	0.000958276	0	0
SLC38A2	54407	broad.mit.edu	37	12	46765012	46765012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:46765012G>A	uc001rpg.3	-	1	505	c.65C>T	c.(64-66)tCc>tTc	p.S22F	SLC38A2_uc001rph.3_5'UTR	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	22	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GTCGCTGTTGGAACTGTAGCT	0.507000														122			28		0	0	0.00178596	0	0
COBL	23242	broad.mit.edu	37	7	51097008	51097008	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:51097008C>T	uc003tps.3	-	10	2141	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E	COBL_uc003tpr.4_Silent_p.E595E|COBL_uc011kcl.2_Silent_p.E595E|COBL_uc003tpp.4_Silent_p.E381E|COBL_uc003tpq.4_Silent_p.E536E|COBL_uc003tpo.4_Silent_p.E137E	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	595										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CAGGTACTTCCTCCCTTGCCT	0.557000														34			9		0	0	0.000442599	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727255	50727255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:50727255G>A	uc003bkv.4	-	4	1390	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	433	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCTCCACAAGGATAGAGTCG	0.617000														15			4		0	0	0.00024832	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935608	151935608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:151935608C>T	uc022chl.1	-	0	559	c.559G>A	c.(559-561)Gat>Aat	p.D187N	MAGEA3_uc004fgp.3_Missense_Mutation_p.D187N	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	187	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGCCATCGTAGGAGAGG	0.572000														47			17		0	0	0.000566183	0	0
MICAL2	9645	broad.mit.edu	37	11	12247799	12247799	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:12247799C>T	uc001mjz.3	+	13	2058	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	MICAL2_uc010rch.1_Silent_p.I590I|MICAL2_uc001mka.3_Silent_p.I590I|MICAL2_uc010rci.2_Silent_p.I590I|MICAL2_uc001mkb.3_Silent_p.I590I|MICAL2_uc001mkc.3_Silent_p.I590I|MICAL2_uc001mkd.3_Silent_p.I419I|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	590	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGTTTGGGATCCCTCCAGTGA	0.512000														126			22		0	0	0.00152264	0	0
MED25	81857	broad.mit.edu	37	19	50333986	50333986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:50333986G>A	uc002ppw.2	+	8	1006	c.943G>A	c.(943-945)Gga>Aga	p.G315R	MED25_uc010ybe.2_Missense_Mutation_p.G102R|MED25_uc002ppx.1_Missense_Mutation_p.G96R	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	315	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGCTGCTCCCGGAGTGGGTCC	0.667000														32			6		0	0	8.12818e-05	0	0
GK2	2712	broad.mit.edu	37	4	80327846	80327847	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:80327846_80327847CC>TT	uc003hlu.3	-	0	1526_1527	c.1508_1509GG>AA	c.(1507-1509)tgg>tAA	p.W503*		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	503					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						CGGCTTTCTTCCATGTGGCATA	0.460000														77			16		0	0	6.4e-05	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916516	86916516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:86916516C>T	uc003hpk.3	+	8	2158	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	ARHGAP24_uc003hpl.3_Missense_Mutation_p.S475F|ARHGAP24_uc010ikf.3_Missense_Mutation_p.S485F|ARHGAP24_uc003hpm.3_Missense_Mutation_p.S477F	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	570					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.Y569C(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACTCCAACTCCTGTCGCTCT	0.537000														68			16		0	0	0.00074312	0	0
FAM133B	257415	broad.mit.edu	37	7	92207462	92207462	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:92207462A>C	uc003umc.3	-	5	410	c.309_splice	c.e5+1	p.R103_splice	FAM133B_uc003umb.3_Splice_Site_p.R93_splice|FAM133B_uc022ahf.1_Splice_Site_p.R103_splice	NM_152789	NP_001035146	Q5BKY9	F133B_HUMAN	Homo sapiens family with sequence similarity 133, member B (FAM133B), transcript variant 1, mRNA.	103	Lys-rich.|Ser-rich.									endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTTTGCTCACCCTACCAGA	0.303000														41			11		0	0	0.000978159	0	0
MIB1	57534	broad.mit.edu	37	18	19359612	19359612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:19359612C>T	uc002ktq.3	+	5	874	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	292					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGATGAAGATCATGACATTGT	0.368000														178			29		0	0	0.001512	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971130	31971130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:31971130C>T	uc011adc.2	-	0	64	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	22						intermediate filament		p.E21K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCTAGGCCTTCGTATCCA	0.567000														71			11		0	0	0.00185496	0	0
MYH10	4628	broad.mit.edu	37	17	8452063	8452063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:8452063G>A	uc002glm.3	-	9	1058	c.962C>T	c.(961-963)tCc>tTc	p.S321F	MYH10_uc002gll.3_Missense_Mutation_p.S311F|MYH10_uc010cnx.3_Missense_Mutation_p.S320F|Metazoa_SRP_uc021tqb.1_5'Flank|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	311	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATAGCCATTGGAGAGAAACCT	0.373000														177			29		0	0	0.000409698	0	0
CACNG4	27092	broad.mit.edu	37	17	65021058	65021058	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:65021058G>A	uc002jft.2	+	2	435	c.387G>A	c.(385-387)agG>agA	p.R129R		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	129					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GTGCTGGCAGGATCTACAGCC	0.687000														64			10		0	0	0.000673444	0	0
NTRK3	4916	broad.mit.edu	37	15	88420309	88420309	+	Silent	SNP	G	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:88420309G>T	uc002bme.2	-	19	2683	c.2377C>A	c.(2377-2379)Cga>Aga	p.R793R	NTRK3_uc002bmh.2_Silent_p.R771R|NTRK3_uc002bmf.2_Silent_p.R779R|NTRK3_uc021sua.1_Silent_p.R771R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	793	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCAGACTCGGGGCCGCTCC	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				31			11		3.86212e-05	0.000201761	0.000673444	1	0
MS4A2	2206	broad.mit.edu	37	11	59857832	59857832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:59857832G>A	uc001nop.3	+	2	312	c.210G>A	c.(208-210)atG>atA	p.M70I	MS4A2_uc009ymu.3_Missense_Mutation_p.M70I|MS4A2_uc021qka.1_Intron	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	70					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGACTGCTATGATATGCCTTT	0.323000														203			24		0	0	0.00127121	0	0
CABIN1	23523	broad.mit.edu	37	22	24487737	24487737	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:24487737C>T	uc002zzi.1	+	23	3853	c.3726C>T	c.(3724-3726)gcC>gcT	p.A1242A	CABIN1_uc021wnc.1_Silent_p.A1192A|CABIN1_uc002zzj.1_Silent_p.A1192A|CABIN1_uc002zzl.2_Silent_p.A1242A	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1242					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGAGGCTGCCCGCTACCCCA	0.637000														58			9		0	0	0.000673444	0	0
SERTM1	400120	broad.mit.edu	37	13	37269436	37269436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:37269436C>T	uc001uvt.4	+	1	667	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERTM1_uc021rii.1_Missense_Mutation_p.S74F	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	74	Poly-Ser.					integral to membrane											TCCTCCAGTTCCTCCTACCCA	0.448000														108			18		0	0	0.00074312	0	0
DSG4	147409	broad.mit.edu	37	18	28993088	28993088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:28993088C>T	uc002kwr.2	+	14	2845	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	DSG4_uc002kwq.2_Missense_Mutation_p.P885S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	885					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGATTGACTCCCTCAGAAGT	0.428000														80			16		0	0	0.000422831	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146129	31146129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:31146129G>A	uc003tca.2	+	15	1527	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.R441Q|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.R440Q|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.R392Q|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.R441Q	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	413					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAGATCAAGCGAAAATGGCGA	0.612000														21			10		0	0	0.000673444	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768064	31768064	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:31768064G>A	uc002nsy.4	-	1	2700	c.2635C>T	c.(2635-2637)Ctg>Ttg	p.L879L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	879					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCCTCCTCCAGAGTGGCCCCG	0.577000														34			13		0	0	0.00136819	0	0
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:189068016C>T	uc003izm.1	+	5	1012	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(4)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512000														140			23		0	0	0.000375601	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852064	14852064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:14852064G>A	uc010dlo.2	+	35	3944	c.3764G>A	c.(3763-3765)aGa>aAa	p.R1255K	ANKRD30B_uc021uhy.1_Missense_Mutation_p.R1255K|ANKRD30B_uc010xal.1_Missense_Mutation_p.R397K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1340										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GATGATCTAAGAGAAAATGCA	0.348000														15			4		0	0	0.00024832	0	0
RET	5979	broad.mit.edu	37	10	43622166	43622166	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:43622166C>T	uc001jal.3	+	18	3373	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	RET_uc001jak.1_Silent_p.L1061L|RET_uc010qez.1_Silent_p.L807L	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1061			L -> P (in HSCR1).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AAAACAAACTCTATGGTAGAA	0.478000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					12			4		0	0	0.00024832	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048179	55048179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:55048179C>T	uc010erm.2	+	0	59	c.47C>T	c.(46-48)tCa>tTa	p.S16L	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TCTGAAATCTCATTTGACCAG	0.512000											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		49			14		0	0	0.000422831	0	0
C8orf34	116328	broad.mit.edu	37	8	69621293	69621293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:69621293G>A	uc010lyz.3	+	8	1597	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	C8orf34_uc003xyb.3_Missense_Mutation_p.E325K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	350					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCCAGATGAAAAAATCCC	0.328000														26			8		0	0	0.000274275	0	0
HOOK2	29911	broad.mit.edu	37	19	12874530	12874530	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:12874530G>A	uc002muy.2	-	20	2061	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	HOOK2_uc002muz.2_Silent_p.S628S	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding	p.S630A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTGTCCTCAGGGAATGGAGTT	0.602000														38			8		0	0	0.000442599	0	0
ABCD4	5826	broad.mit.edu	37	14	74759505	74759505	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:74759505G>A	uc001xpr.2	-	8	1034	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ABCD4_uc001xps.2_Silent_p.F135F|ABCD4_uc010tur.2_Silent_p.F190F|ABCD4_uc001xpu.2_Silent_p.F31F|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	294	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGACCCCGCTGAAAATGGGGA	0.537000														46			8		0	0	0.000673444	0	0
AP4S1	11154	broad.mit.edu	37	14	31539121	31539121	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:31539121G>T	uc001wqw.4	+	2	600	c.211G>T	c.(211-213)Gtt>Ttt	p.V71F	AP4S1_uc021rry.1_Missense_Mutation_p.V71F|AP4S1_uc001wqx.4_Missense_Mutation_p.V71F|AP4S1_uc010amh.3_Missense_Mutation_p.V71F|AP4S1_uc001wqy.4_Missense_Mutation_p.V71F|AP4S1_uc021rrz.1_Missense_Mutation_p.V71F	NM_007077	NP_009008	Q9Y587	AP4S1_HUMAN	Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA.	71						Golgi apparatus|coated pit	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TGTGGTTGGAGTTAATGACAC	0.338000														318			61		2.02627e-32	1.07407e-31	0.000781405	1	0
SLC5A10	125206	broad.mit.edu	37	17	18862036	18862036	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:18862036C>T	uc002gut.1	+	1	194	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SLC5A10_uc002gur.1_5'UTR|SLC5A10_uc002guu.1_Silent_p.F51F|SLC5A10_uc002guv.1_Silent_p.F51F|SLC5A10_uc010vyl.1_Silent_p.F51F	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	51					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATGGCTACTTCCTGGCAGGCC	0.592000														59			8		0	0	0.00136819	0	0
ANK3	288	broad.mit.edu	37	10	61830991	61830991	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:61830991G>A	uc001jky.3	-	36	9986	c.9648C>T	c.(9646-9648)acC>acT	p.T3216T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3216					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTAAGGGAGGTTGACTTGG	0.483000														102			27		0	0	0.00106085	0	0
COL4A3	1285	broad.mit.edu	37	2	228148999	228148999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:228148999G>A	uc002vom.2	+	33	2981	c.2819G>A	c.(2818-2820)gGa>gAa	p.G940E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	940	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGATAAAGGAAATCCCGGG	0.498000														54			9		0	0	0.000673444	0	0
SCN9A	6335	broad.mit.edu	37	2	167055757	167055757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:167055757C>T	uc010fpl.3	-	26	5700	c.5359G>A	c.(5359-5361)Gag>Aag	p.E1787K	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTAGAGAACTCTATAAACTGG	0.463000														87			21		0	0	0.00152264	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778079	56778079	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:56778079G>A	uc003jrm.3	-	0	558	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	152						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AATCCATCACGATGCCTGTGG	0.552000														41			17		0	0	0.000958276	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230154	137230154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:137230154G>A	uc003lby.3	+	3	436	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PKD2L2_uc010jep.1_Missense_Mutation_p.G67E|PKD2L2_uc003lbw.1_Missense_Mutation_p.G127E|PKD2L2_uc003lbx.3_Missense_Mutation_p.G127E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	127						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATACTTCTAGGAGTTCCCAGA	0.383000														51			12		0	0	0.000978159	0	0
PTPRG	5793	broad.mit.edu	37	3	62063909	62063909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:62063909G>A	uc003dlb.3	+	4	1311	c.592G>A	c.(592-594)Gga>Aga	p.G198R	PTPRG_uc003dlc.3_Missense_Mutation_p.G198R	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	198	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATAATCGGAGCCATGGC	0.313000														35			5		0	0	0.000602214	0	0
OPN5	221391	broad.mit.edu	37	6	47754302	47754302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:47754302G>A	uc003ozc.3	+	1	210	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTTCTAGACGAAAGAAGAAG	0.378000														60			18		0	0	0.00074312	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449741	61449741	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:61449741C>T	uc002ljl.3	+	1	231	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_uc002ljm.3_Silent_p.G45G|SERPINB7_uc010xet.2_Silent_p.G45G|SERPINB7_uc010dqg.3_Silent_p.G45G	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	45					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)				TCCGCTTGGGCGCTCAAGATG	0.478000														89			16		0	0	0.000958276	0	0
FNDC1	84624	broad.mit.edu	37	6	159618564	159618564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:159618564G>A	uc010kjv.3	+	1	411	c.211G>A	c.(211-213)Gag>Aag	p.E71K	FNDC1_uc010kjw.1_Missense_Mutation_p.E19K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	71	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TAGACCTGTGGAGCATTACAA	0.473000														114			31		0	0	0.00178596	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889352	15889352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:15889352C>T	uc002yju.1	-	2	222	c.140G>A	c.(139-141)gGa>gAa	p.G47E	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.G115E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	47					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGTGGGATCTCCTTCATGTGC	0.323000														39			5		0	0	0.00116845	0	0
KCNH8	131096	broad.mit.edu	37	3	19575176	19575176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:19575176C>T	uc003cbk.1	+	15	3104	c.2909C>T	c.(2908-2910)cCc>cTc	p.P970L	KCNH8_uc010hex.1_Missense_Mutation_p.P431L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	970	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGGAGCAGCCCCCAACGAACT	0.488000														66			27		0	0	0.00178596	0	0
C18orf62	284274	broad.mit.edu	37	18	73130777	73130777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:73130777G>A	uc002lma.1	-	1	295	c.224C>T	c.(223-225)tCt>tTt	p.S75F	C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	75						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		ccagtcttcagaaaccccttg	0.358000														133			19		0	0	0.000720815	0	0
FANK1	92565	broad.mit.edu	37	10	127677120	127677121	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:127677120_127677121GG>AA	uc009yan.3	+	3	296	c.192_splice	c.e3-1	p.T64_splice	FANK1_uc010quk.1_Splice_Site_p.T58_splice|FANK1_uc001ljh.4_Splice_Site_p.T64_splice|FANK1_uc001lji.3_Splice_Site_p.T58_splice	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	64	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCCTGTCTAGGGGATATGCAAC	0.495000														118			29		0	0	6.4e-05	0	0
CCDC80	151887	broad.mit.edu	37	3	112358346	112358346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:112358346G>A	uc003dzf.3	-	1	625	c.407C>T	c.(406-408)tCc>tTc	p.S136F	CCDC80_uc011bhv.2_Missense_Mutation_p.S136F|CCDC80_uc003dzg.3_Missense_Mutation_p.S136F|CCDC80_uc003dzh.1_Missense_Mutation_p.S136F	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	136										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGGAGAGCTGGACCCCGAAGG	0.572000														58			14		0	0	0.000219431	0	0
ACE	1636	broad.mit.edu	37	17	61573825	61573825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:61573825C>T	uc002jau.2	+	22	3485	c.3451C>T	c.(3451-3453)Ccc>Tcc	p.P1151S	ACE_uc010wpj.2_Intron|ACE_uc010ddv.2_Missense_Mutation_p.P378S|ACE_uc002jav.2_Missense_Mutation_p.P577S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1151	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCACACGGGCCCCCTGCACAA	0.647000														50			13		0	0	0.00185496	0	0
LOC440041	440041	broad.mit.edu	37	11	55065680	55065680	+	RNA	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55065680G>A	uc021qjb.1	-	0		c.29C>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CTGGGTCTAGGAAGTAGTTCA	0.478000														47			7		0	0	0.000274275	0	0
CER1	9350	broad.mit.edu	37	9	14722205	14722205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:14722205C>T	uc003zlj.3	-	0	511	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	156					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAATGTACTTCATGGCTTTTG	0.517000														53			12		0	0	0.000219431	0	0
SDR16C5	195814	broad.mit.edu	37	8	57219301	57219301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:57219301C>T	uc010lyk.1	-	4	1282	c.644G>A	c.(643-645)gGg>gAg	p.G215E	SDR16C5_uc003xsy.1_Missense_Mutation_p.G215E|SDR16C5_uc010lyl.1_Missense_Mutation_p.G171E	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	215					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGTTTTGATCCCCTTTTGTTT	0.348000														80			25		0	0	0.00047179	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092272	30092272	+	RNA	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:30092272G>A	uc010dmc.3	+	0		c.647G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TTTGATCCAGGAAATTCCACT	0.483000														17			5		0	0	0.000602214	0	0
OR4K1	79544	broad.mit.edu	37	14	20404405	20404405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20404405G>A	uc001vwj.2	+	0	639	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATACATATGAAATGGAAAT	0.443000														160			17		0	0	0.00074312	0	0
OR4A5	81318	broad.mit.edu	37	11	51412241	51412241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:51412241G>A	uc001nhi.2	-	0	208	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S52S(1)|p.S52P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGAACCCAAGGAAGGGCTGGC	0.428000														44			12		0	0	0.00136819	0	0
OR4D6	219983	broad.mit.edu	37	11	59225122	59225122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:59225122G>A	uc010rku.2	+	0	689	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G230V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCCACTCTGGGGAGGGGCGG	0.562000														52			8		0	0	0.000157383	0	0
OR2G6	391211	broad.mit.edu	37	1	248685402	248685402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:248685402G>A	uc001ien.1	+	0	455	c.455G>A	c.(454-456)gGc>gAc	p.G152D		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152S(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCTCAGCGGCCTCATCACC	0.577000														41			7		0	0	8.12818e-05	0	0
AZI1	22994	broad.mit.edu	37	17	79180936	79180936	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:79180936A>T	uc002jzp.1	-	3	576	c.376T>A	c.(376-378)Tgg>Agg	p.W126R	AZI1_uc002jzn.1_Missense_Mutation_p.W126R|AZI1_uc002jzo.1_Missense_Mutation_p.W126R|AZI1_uc010wum.1_Missense_Mutation_p.W126R	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	126					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGACGTTCCAGGTGGCTCCC	0.592000														29			7		0	0	8.12818e-05	0	0
KIAA0430	9665	broad.mit.edu	37	16	15716921	15716921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:15716921G>A	uc002ddr.3	-	10	2537	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	KIAA0430_uc002ddq.3_Intron|KIAA0430_uc010uzv.2_Missense_Mutation_p.S774L|KIAA0430_uc010uzw.2_Missense_Mutation_p.S777L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	776						peroxisome	RNA binding|nucleotide binding	p.S777S(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCGCTGCTCGAATTTGCAAT	0.443000														79			13		0	0	0.000219431	0	0
THBS1	7057	broad.mit.edu	37	15	39883391	39883391	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:39883391G>A	uc001zkh.3	+	15	2433	c.2254_splice	c.e15-1	p.D752_splice	THBS1_uc010bbi.3_Splice_Site_p.D224_splice	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	752					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTCTTTGCAGGACAACTGTC	0.433000														67			11		0	0	0.00136819	0	0
OR4C3	256144	broad.mit.edu	37	11	48347292	48347292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:48347292C>T	uc010rhv.2	+	0	800	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACCTGTGGAGCCCACTTCATT	0.433000														95			20		0	0	0.000958276	0	0
SWI5	375757	broad.mit.edu	37	9	131038489	131038489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:131038489C>T	uc004bup.3	+	0	65	c.65C>T	c.(64-66)cCc>cTc	p.P22L	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P22L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	22					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AACCGCTGTCCCCGCCCACCT	0.657000														34			8		0	0	0.000442599	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909104	64909105	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:64909104_64909105AC>TT	uc001xhb.3	+	20	2507_2508	c.2120_2121AC>TT	c.(2119-2121)cac>cTT	p.H707L	MTHFD1_uc010aqf.3_Missense_Mutation_p.H763L	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	707	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTCAAGATGCACGGGGGCGGCC	0.525000														52			8		0	0	6.4e-05	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229151	38229151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:38229151G>A	uc001zjw.3	+	2	346	c.244G>A	c.(244-246)Gag>Aag	p.E82K	TMCO5A_uc001zjv.1_Missense_Mutation_p.E82K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E82K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	82						integral to membrane		p.L81M(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GCAGGAGCTGGAGGAAGAAAC	0.483000														30			7		0	0	0.000157383	0	0
GDF5	8200	broad.mit.edu	37	20	34021723	34021723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:34021723G>A	uc010gfc.1	-	1	1731	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	GDF5OS_uc002xcj.3_Missense_Mutation_p.R45Q|GDF5_uc002xck.1_Missense_Mutation_p.S497L	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	497					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCAGCCACACGACTCCACGAC	0.577000														54			11		0	0	0.00136819	0	0
CLEC1A	51267	broad.mit.edu	37	12	10224049	10224049	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:10224049C>T	uc001qxb.3	-	5	810	c.726G>A	c.(724-726)ggG>ggA	p.G242G	CLEC1A_uc001qxd.3_Silent_p.G199G|CLEC1A_uc010sgx.2_Silent_p.G140G	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	242	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.G242W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGAAGATCATCCCATTAAGGA	0.443000														164			37		0	0	0.000509022	0	0
BAIAP2	10458	broad.mit.edu	37	17	79060261	79060261	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:79060261C>T	uc002jzg.2	+	5	478	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	BAIAP2_uc002jyz.4_Nonsense_Mutation_p.Q124*|BAIAP2_uc002jza.2_Nonsense_Mutation_p.Q124*|BAIAP2_uc002jzc.2_Nonsense_Mutation_p.Q124*|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc010wuh.1_Nonsense_Mutation_p.Q46*|BAIAP2_uc002jzd.2_Nonsense_Mutation_p.Q124*|BAIAP2_uc002jzf.2_Nonsense_Mutation_p.Q124*|BAIAP2_uc002jze.2_Nonsense_Mutation_p.Q157*|BAIAP2_uc002jzh.2_Nonsense_Mutation_p.Q125*	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	124	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAGAAATACCAGACTGAGCA	0.532000														103			13		0	0	0.00136819	0	0
OR52A1	23538	broad.mit.edu	37	11	5172910	5172910	+	Silent	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:5172910A>T	uc010qyy.2	-	0	690	c.690T>A	c.(688-690)cgT>cgA	p.R230R		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGGGCAAACGAAAAACTG	0.423000														51			10		0	0	0.000978159	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600727	25600727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:25600727C>T	uc011djw.2	+	32	3673	c.3305C>T	c.(3304-3306)cCa>cTa	p.P1102L	LRRC16A_uc010jpy.3_Missense_Mutation_p.P1102L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1102					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCAGAAGTCCACCTGTGGAC	0.498000														59			9		0	0	0.000442599	0	0
PSG3	5671	broad.mit.edu	37	19	43243087	43243087	+	Silent	SNP	C	T	T	rs150813172		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:43243087C>T	uc002oue.3	-	1	351	c.219G>A	c.(217-219)aaG>aaA	p.K73K	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	73	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTAGAGGTCCTTCATTTGCC	0.438000														190			44		0	0	0.00195071	0	0
PCSK5	5125	broad.mit.edu	37	9	78771975	78771975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:78771975G>A	uc004akc.2	+	10	1865	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	PCSK5_uc004ajy.2_Missense_Mutation_p.G443R|PCSK5_uc004ajz.3_Missense_Mutation_p.G443R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	443	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCATCTTTATGGATTTGGACT	0.522000														84			23		0	0	0.000878237	0	0
TNPO3	23534	broad.mit.edu	37	7	128645159	128645159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:128645159G>A	uc010lly.2	-	4	1010	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	TNPO3_uc003vol.2_Missense_Mutation_p.R203C|TNPO3_uc010llz.2_Missense_Mutation_p.R203C|TNPO3_uc003vom.2_Missense_Mutation_p.R137C	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	203					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCCAAACAGCGAAAAACCTTC	0.323000														84			42		0	0	0.000680045	0	0
LAMP5	24141	broad.mit.edu	37	20	9498771	9498771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:9498771C>T	uc002wni.2	+	4	1055	c.560C>T	c.(559-561)aCc>aTc	p.T187I	LAMP5_uc010zrc.2_Missense_Mutation_p.T143I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	187						integral to membrane											GCTCAACAAACCATTTCACTG	0.522000														49			11		0	0	0.000673444	0	0
OR6N2	81442	broad.mit.edu	37	1	158746811	158746811	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:158746811G>A	uc010pir.2	-	0	615	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A204T(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAAGAATTATGAAAGCATTAA	0.393000														35			8		0	0	0.000157383	0	0
SETD5	55209	broad.mit.edu	37	3	9486919	9486919	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:9486919G>T	uc003brt.3	+	11	1810	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	SETD5_uc003brs.1_Nonsense_Mutation_p.E440*|SETD5_uc003bru.3_Nonsense_Mutation_p.E361*|SETD5_uc003brv.3_Nonsense_Mutation_p.E348*|SETD5_uc010hck.3_5'UTR|SETD5_uc003brw.1_Nonsense_Mutation_p.E128*|SETD5_uc003brx.3_Nonsense_Mutation_p.E128*	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	459										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGAGGCTTCAGAGGAGAATAA	0.478000														21			5		1.23904e-05	6.4885e-05	0.000602214	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449924	105449924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:105449924G>A	uc022cca.1	+	0	499	c.499G>A	c.(499-501)Gat>Aat	p.D167N	MUM1L1_uc004emg.2_Missense_Mutation_p.D167N|MUM1L1_uc004emf.2_Missense_Mutation_p.D167N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	167										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTGTATGATGATAAATCACA	0.433000														13			8		0	0	0.000157383	0	0
FGF7	2252	broad.mit.edu	37	15	49776595	49776595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:49776595G>A	uc001zxn.3	+	3	1008	c.479G>A	c.(478-480)gGa>gAa	p.G160E	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACACAACGGAGGGGAAATG	0.353000														57			15		0	0	0.000308642	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833612	43833612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:43833612G>A	uc002zbe.3	+	4	731	c.647G>A	c.(646-648)aGc>aAc	p.S216N	UBASH3A_uc002zbf.3_Intron|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Intron|UBASH3A_uc010gpd.3_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	216						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCCTTCGTGAGCCACTACATC	0.488000														57			12		0	0	0.00185496	0	0
LNX2	222484	broad.mit.edu	37	13	28136618	28136618	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:28136618G>A	uc001url.4	-	4	1465	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	LNX2_uc001urm.1_Nonsense_Mutation_p.R386*	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	386	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCAGCACTCGGTCATTGCTG	0.527000														105			19		0	0	0.000375601	0	0
PGLS	25796	broad.mit.edu	37	19	17628187	17628187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:17628187C>T	uc002ngw.3	+	2	537	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	163						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCAGACCACCCCCTCCTACA	0.637000														70			17		0	0	0.000566183	0	0
LOXL1	4016	broad.mit.edu	37	15	74219544	74219544	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:74219544C>T	uc002awc.1	+	0	756	c.420C>T	c.(418-420)gcC>gcT	p.A140A	LOC100287616_uc021spy.1_Intron|LOC100287616_uc002awa.2_Intron|LOC100287616_uc021spz.1_Intron|LOC100287616_uc021sqa.1_Intron|LOC100287616_uc002awb.2_Intron	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	140					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGGGCATGGCCCGGGCCCGCA	0.741000														15			4		0	0	0.000602214	0	0
CCDC148	130940	broad.mit.edu	37	2	159028671	159028671	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:159028671T>A	uc002tzq.3	-	13	2044	c.1730A>T	c.(1729-1731)cAa>cTa	p.Q577L	CCDC148_uc002tzr.3_Missense_Mutation_p.Q425L|CCDC148_uc010foh.3_Missense_Mutation_p.Q290L|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	577								p.Q577*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGAGGTTTTTGAGGACTAAT	0.338000														70			16		0	0	0.000422831	0	0
TRIM60	166655	broad.mit.edu	37	4	165962087	165962087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:165962087G>A	uc003iqy.1	+	2	1033	c.863G>A	c.(862-864)aGa>aAa	p.R288K	TRIM60_uc010iqx.1_Missense_Mutation_p.R288K|TRIM60_uc021xty.1_Missense_Mutation_p.R288K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	288	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGCTTGGACAGAATTATCAAG	0.373000														112			14		0	0	0.00074312	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427313	38427313	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:38427313G>A	uc003jlc.2	+	13	2359	c.2013G>A	c.(2011-2013)gtG>gtA	p.V671V	EGFLAM_uc003jlb.2_Silent_p.V671V|EGFLAM_uc003jle.2_Silent_p.V437V|EGFLAM_uc003jlf.2_Silent_p.V37V	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)					GGGGCCACGTGGAGTTCCGCT	0.522000														110			32		0	0	0.000409698	0	0
KALRN	8997	broad.mit.edu	37	3	124438240	124438240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:124438240C>T	uc003ehg.3	+	59	9011	c.8884C>T	c.(8884-8886)Cgc>Tgc	p.R2962C	KALRN_uc003ehk.3_Missense_Mutation_p.R1265C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2961					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATAGAACGTCGCAAGCACCA	0.547000														34			9		0	0	0.000978159	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834175	125834175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:125834175G>A	uc001uhe.1	+	1	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	77						integral to membrane		p.R77Q(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCATCTACCGAGCCAGGACA	0.507000														62			16		0	0	0.000566183	0	0
ADCY8	114	broad.mit.edu	37	8	131861869	131861869	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:131861869G>A	uc003ytd.4	-	9	2647	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCACCCAGGAAATTAATCA	0.453000										HNSCC(32;0.087)				24			18		0	0	0.00152264	0	0
OR8I2	120586	broad.mit.edu	37	11	55860825	55860825	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55860825C>T	uc010rix.2	+	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTTCATCCTCTCTGGATTTG	0.398000														136			23		0	0	0.000586117	0	0
SPAM1	6677	broad.mit.edu	37	7	123594264	123594264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:123594264C>T	uc003vle.3	+	2	1079	c.640C>T	c.(640-642)Cac>Tac	p.H214Y	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.H214Y|SPAM1_uc022aks.1_Missense_Mutation_p.H214Y|SPAM1_uc003vlf.4_Missense_Mutation_p.H214Y|SPAM1_uc010lku.3_Missense_Mutation_p.H214Y	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	214					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TCGGCCAAATCACTTGTGGGG	0.373000														75			19		0	0	0.000958276	0	0
CNTN5	53942	broad.mit.edu	37	11	100126624	100126624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:100126624C>T	uc001pga.3	+	16	2642	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F	CNTN5_uc001pfz.3_Missense_Mutation_p.S713F|CNTN5_uc021qpb.1_Missense_Mutation_p.S713F|CNTN5_uc021qpc.1_Missense_Mutation_p.S639F|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	713	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCCCATTTTCCCTGGGCTGG	0.493000														60			14		0	0	0.00074312	0	0
C20orf94	128710	broad.mit.edu	37	20	10603716	10603716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:10603716G>A	uc010zre.2	+	7	1096	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	306							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						GGAAGACTTCGACCACCACGG	0.488000														94			23		0	0	0.000586117	0	0
ANO4	121601	broad.mit.edu	37	12	101477520	101477520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:101477520G>A	uc010svm.1	+	15	2032	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	ANO4_uc001thw.2_Missense_Mutation_p.G452E|ANO4_uc001thx.2_Missense_Mutation_p.G487E|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	487						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCAATTTCTGGAAAGCCAGAA	0.348000										HNSCC(74;0.22)				84			17		0	0	0.000422831	0	0
ZAN	7455	broad.mit.edu	37	7	100352875	100352875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:100352875G>A	uc003uwj.3	+	14	3316	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	ZAN_uc003uwk.3_Missense_Mutation_p.E1051K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1051	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Y1050Y(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCCGCTACGAATCCTGTGC	0.567000														95			20		0	0	0.00152264	0	0
ANO1	55107	broad.mit.edu	37	11	69933904	69933904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:69933904G>A	uc001opj.3	+	1	460	c.155G>A	c.(154-156)gGc>gAc	p.G52D	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.G24D	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	52					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGCAAGTATGGCCTGTACTTC	0.587000														20			5		0	0	0.000157383	0	0
HEPH	9843	broad.mit.edu	37	X	65411988	65411988	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:65411988C>T	uc011moz.2	+	6	1379	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HEPH_uc004dwn.3_Silent_p.L363L|HEPH_uc004dwo.3_Silent_p.L93L|HEPH_uc010nkr.3_Silent_p.L363L|HEPH_uc011mpa.2_Silent_p.L363L	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	360	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.D414E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGCAGGCACTCTACAAGGTCA	0.488000														14			9		0	0	0.000978159	0	0
DNAH17	8632	broad.mit.edu	37	17	76506586	76506586	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:76506586C>T	uc010dhp.2	-	26	4241	c.4116G>A	c.(4114-4116)gtG>gtA	p.V1372V		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTAAATTTCACCTAAGGGA	0.507000														68			8		0	0	0.000157383	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329751	8329751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:8329751C>T	uc001qud.1	+	4	547	c.475C>T	c.(475-477)Cct>Tct	p.P159S		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TCTTTTCTCCCCTAAACCACA	0.373000														155			33		0	0	0.000339439	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277565	140277565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:140277565C>T	uc003etn.3	+	11	2097	c.1907C>T	c.(1906-1908)aCc>aTc	p.T636I		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	636					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCCGGATCACCCTCCGGGGC	0.562000										HNSCC(16;0.037)				41			7		0	0	0.000157383	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217888	45217889	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:45217888_45217889CC>TT	uc002xsf.2	-	6	966_967	c.926_927GG>AA	c.(925-927)tgg>tAA	p.W309*	SLC13A3_uc010ghn.2_Nonsense_Mutation_p.W278*|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.W211*|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.W259*|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.W262*|SLC13A3_uc010gho.2_Nonsense_Mutation_p.W262*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	309						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TATTCTTCCTCCAGCCCCTGAA	0.495000														70			14		0	0	6.4e-05	0	0
QSER1	79832	broad.mit.edu	37	11	32954688	32954688	+	Silent	SNP	C	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:32954688C>A	uc001mty.3	+	3	1764	c.1497C>A	c.(1495-1497)tcC>tcA	p.S499S	QSER1_uc001mtz.1_Silent_p.S260S|QSER1_uc001mua.3_Silent_p.S4S	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	499	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGCATTCTTCCCAAAATGTTC	0.438000														62			16		2.32078e-09	1.22123e-08	0.000308642	1	0
ADAM18	8749	broad.mit.edu	37	8	39564371	39564371	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:39564371C>T	uc003xni.3	+	17	2020	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.F631F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	655					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.F655I(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGTAAATTCCAGTTTGGTT	0.338000														153			16		0	0	0.00074312	0	0
MYH4	4622	broad.mit.edu	37	17	10357112	10357112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:10357112C>T	uc002gmn.3	-	22	2893	c.2782G>A	c.(2782-2784)Gaa>Aaa	p.E928K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	928					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T927P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCTCTTTCAGTTACCTCT	0.438000														282			47		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10408207	10408207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:10408207C>T	uc002gmo.3	-	21	2705	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	871						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTTTTGCCTCGGTCTTAGCC	0.423000														95			19		0	0	0.00152264	0	0
FBLN1	2192	broad.mit.edu	37	22	45929715	45929715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:45929715C>T	uc010gzz.3	+	7	982	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	FBLN1_uc003bgg.1_Missense_Mutation_p.R241C|FBLN1_uc003bgh.3_Missense_Mutation_p.R241C|FBLN1_uc003bgi.1_Missense_Mutation_p.R241C|FBLN1_uc003bgj.1_Missense_Mutation_p.R241C	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	241	EGF-like 3; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGCTCTTTCCGCTGCCAGCG	0.587000														117			23		0	0	0.001512	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:24884117C>T	uc001wpf.4	+	8	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1054					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652000														70			11		0	0	0.000978159	0	0
FAM221A	340277	broad.mit.edu	37	7	23731110	23731110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:23731110C>T	uc003swo.4	+	3	621	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	FAM221A_uc003swq.4_Nonsense_Mutation_p.Q178*|FAM221A_uc003swr.4_Nonsense_Mutation_p.Q120*|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	178																	AAGATTGGCTCAGGAAAAACC	0.493000														120			23		0	0	0.000375601	0	0
EVPL	2125	broad.mit.edu	37	17	74004938	74004938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:74004938C>T	uc010wss.1	-	21	4642	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	EVPL_uc002jqi.2_Missense_Mutation_p.E1450K|EVPL_uc010wst.1_Missense_Mutation_p.E920K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1450	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCGCTTCTCGAGCTCCTGG	0.637000														98			18		0	0	0.00188189	0	0
CACNA1S	779	broad.mit.edu	37	1	201061190	201061190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:201061190G>A	uc001gvv.3	-	3	678	c.451C>T	c.(451-453)Cca>Tca	p.P151S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	151					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTGCTCATTGGGGCTGTGTGG	0.592000														45			9		0	0	0.000978159	0	0
ASTN1	460	broad.mit.edu	37	1	177001730	177001730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:177001730C>T	uc001glc.3	-	2	939	c.727G>A	c.(727-729)Gag>Aag	p.E243K	ASTN1_uc001glb.1_Missense_Mutation_p.E243K|ASTN1_uc001gld.1_Missense_Mutation_p.E243K|ASTN1_uc009wwx.1_Missense_Mutation_p.E243K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	243					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGTCATACTCATAGCCGTCC	0.642000														58			14		0	0	0.000308642	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644399	31644399	+	Missense_Mutation	SNP	C	T	T	rs112217883	byFrequency	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:31644399C>T	uc002wym.1	+	1	176	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	59	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTGCTGGGATCGGTCACAGCT	0.597000														74			10		0	0	0.000978159	0	0
C15orf42	90381	broad.mit.edu	37	15	90118964	90118964	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:90118964C>T	uc002boe.3	+	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	C15orf42_uc021sug.1_Silent_p.F49F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	49					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTTCAAGTTCTTTGACTCGC	0.711000														13			5		0	0	8.12818e-05	0	0
CASR	846	broad.mit.edu	37	3	121981060	121981060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:121981060C>T	uc003eew.4	+	3	1616	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CASR_uc003eev.4_Missense_Mutation_p.P393L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	393					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCTTCCGACCCCTCTGTACA	0.493000														44			8		0	0	0.000442599	0	0
MXRA5	25878	broad.mit.edu	37	X	3238476	3238476	+	Silent	SNP	C	T	T	rs79552860		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:3238476C>T	uc004crg.4	-	4	5407	c.5250G>A	c.(5248-5250)caG>caA	p.Q1750Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1750						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGTGGGTATCTGGGGTCTCC	0.473000														17			15		0	0	0.000308642	0	0
PHF1	5252	broad.mit.edu	37	6	33382066	33382066	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:33382066A>T	uc003oeh.3	+	8	1035	c.799A>T	c.(799-801)Aag>Tag	p.K267*	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Nonsense_Mutation_p.K267*|PHF1_uc010jux.3_Nonsense_Mutation_p.K67*	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	267					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGTTTGCTGTAAGAAGAAATA	0.473000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			26		0	0	0.000720815	0	0
FAAH2	158584	broad.mit.edu	37	X	57358031	57358031	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:57358031G>A	uc004dvc.3	+	4	562	c.413_splice	c.e4-1	p.G138_splice		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	138						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACTCTTTTAGGAATGCCCAAT	0.423000										HNSCC(52;0.14)				28			17		0	0	0.000566183	0	0
NIPAL4	348938	broad.mit.edu	37	5	156894083	156894083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:156894083G>A	uc003lwx.4	+	2	606	c.490G>A	c.(490-492)Gat>Aat	p.D164N	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Intron|NIPAL4_uc010jin.1_3'UTR	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	164						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACCTGAAAGATGCAATGTG	0.498000														29			4		0	0	0.00024832	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034642	9034642	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:9034642G>A	uc003brf.1	-	19	3182	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.Q812*	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	836					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTGGGGGACTGGAGGTCGTTT	0.572000			T	RAF1	pilocytic astrocytoma									31			9		0	0	0.000673444	0	0
LRFN5	145581	broad.mit.edu	37	14	42355964	42355964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:42355964C>T	uc001wvm.3	+	2	1334	c.136C>T	c.(136-138)Cca>Tca	p.P46S	LRFN5_uc010ana.3_Missense_Mutation_p.P46S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	46	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTATTTGTTCCACCAAACAT	0.408000										HNSCC(30;0.082)				32			10		0	0	0.00136819	0	0
DGKD	8527	broad.mit.edu	37	2	234360705	234360705	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:234360705C>T	uc002vui.1	+	18	2276	c.2264_splice	c.e18+1	p.L755_splice	DGKD_uc002vuj.1_Splice_Site_p.L711_splice|DGKD_uc010fyh.1_Splice_Site_p.L622_splice|DGKD_uc010fyi.1_Splice_Site	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	755					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCAGAAACCCTGTGAGTATG	0.458000														50			16		0	0	0.000422831	0	0
TP73	7161	broad.mit.edu	37	1	3599693	3599693	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:3599693G>A	uc001akp.3	+	2	245	c.135G>A	c.(133-135)acG>acA	p.T45T	TP73_uc021ofb.1_Silent_p.T45T|TP73_uc021ofc.1_Silent_p.T45T|TP73_uc021ofd.1_Silent_p.T45T|TP73_uc021ofe.1_Silent_p.T45T|TP73_uc021off.1_Silent_p.T45T	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	45	Asp/Glu-rich (acidic).|Transactivation (By similarity).				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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.T45T(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGGCGGAACGGATTCCAGCA	0.582000														66			13		0	0	0.00185496	0	0
SUMF2	25870	broad.mit.edu	37	7	56136221	56136222	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:56136221_56136222CC>TT	uc011kcw.2	+	1	202_203	c.171_172CC>TT	c.(169-174)ttcctg>ttTTtg	p.57_58FL>FL	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Intron|SUMF2_uc003trv.3_Silent_p.57_58FL>FL|SUMF2_uc011kcy.2_Silent_p.57_58FL>FL|SUMF2_uc011kcz.2_Silent_p.57_58FL>FL|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Silent_p.57_58FL>FL	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	38						endoplasmic reticulum lumen	metal ion binding	p.A57A(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGGAGATTCCTGATGGGAAC	0.470000														47			8		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9086816	9086816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9086816C>T	uc002mkp.3	-	0	5203	c.4999G>A	c.(4999-5001)Gaa>Aaa	p.E1667K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1667	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTTCTTTCCAGTGCCATG	0.512000														53			18		0	0	0.00074312	0	0
ITGA3	3675	broad.mit.edu	37	17	48153710	48153710	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:48153710C>T	uc010dbm.3	+	12	2159	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ITGA3_uc010dbl.3_Silent_p.L565L	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	565					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTGACAAACTCCGCCCCATCA	0.637000														91			10		0	0	0.000673444	0	0
BCHE	590	broad.mit.edu	37	3	165548085	165548085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:165548085G>A	uc003fem.4	-	1	897	c.737C>T	c.(736-738)aCc>aTc	p.T246I	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	246					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATGGCTCTGGTGAACAATGA	0.433000														96			8		0	0	0.000274275	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573379	19573379	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:19573379G>A	uc003zoa.2	-	5	1470	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	SLC24A2_uc003zob.2_Silent_p.L422L	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	439					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGTTGTGGGAGAGATTTCCAT	0.443000														63			9		0	0	0.000274275	0	0
EFHA2	286097	broad.mit.edu	37	8	16921659	16921659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:16921659C>T	uc003wxd.2	+	1	490	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	150						integral to membrane	calcium ion binding	p.R150C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GAGGCGATTTCGTTTATTTGC	0.383000														99			15		0	0	0.000219431	0	0
CYTIP	9595	broad.mit.edu	37	2	158300366	158300366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:158300366C>T	uc002tzj.1	-	0	239	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	56					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TACCTGCTTTCGTCCCCGAGG	0.448000														59			15		0	0	0.000566183	0	0
LRP1	4035	broad.mit.edu	37	12	57574473	57574473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:57574473C>T	uc001snd.3	+	32	5876	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1804					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGGCTGATCAGGTGTCGGA	0.612000														34			5		0	0	0.000602214	0	0
UBAC2	337867	broad.mit.edu	37	13	99966405	99966405	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:99966405C>T	uc010tiu.2	+	4	845	c.510C>T	c.(508-510)gtC>gtT	p.V170V	UBAC2_uc001voa.4_Silent_p.V148V|UBAC2_uc001vob.4_Silent_p.V121V|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Silent_p.V35V|UBAC2_uc001voc.3_Silent_p.V113V|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_5'UTR	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	148						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TACCAAGAGTCCAAGTGGCAC	0.358000														130			23		0	0	0.00106085	0	0
PTPRC	5788	broad.mit.edu	37	1	198685931	198685931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:198685931G>A	uc001gur.1	+	12	1586	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	PTPRC_uc001gut.1_Missense_Mutation_p.G308E|PTPRC_uc009wzf.1_Missense_Mutation_p.G357E|PTPRC_uc021pgy.1_Missense_Mutation_p.G423E|PTPRC_uc010ppg.1_Missense_Mutation_p.G405E	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	469	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAACGTAATGGAAGTGCTGCA	0.299000														59			11		0	0	0.00185496	0	0
OR6T1	219874	broad.mit.edu	37	11	123814281	123814281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:123814281C>T	uc010sab.2	-	0	265	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G88V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGGTGTGATCCCCCGTGAGG	0.502000														45			16		0	0	0.000566183	0	0
NPSR1	387129	broad.mit.edu	37	7	34698124	34698124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:34698124G>A	uc003teh.1	+	0	228	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.E34K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.E34K|NPSR1_uc003tei.1_Missense_Mutation_p.E34K|NPSR1_uc010kww.1_Missense_Mutation_p.E34K|NPSR1_uc011kar.1_Missense_Mutation_p.E34K	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	34						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GACTTTTACTGAAGTGGTGGA	0.498000														49			24		0	0	0.000375601	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062066	78062066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:78062066G>A	uc002ffh.4	+	1	259	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	CLEC3A_uc021tlr.1_5'Flank	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	60					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGCCTTGAAGGAAATTCAAGC	0.473000														49			11		0	0	0.00185496	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397878	57397878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:57397878G>A	uc001sml.2	-	1	977	c.824C>T	c.(823-825)tCc>tTc	p.S275F	ZBTB39_uc021qzg.1_Missense_Mutation_p.S275F	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCTCAGACAGGAGTTGGTCCC	0.502000														78			15		0	0	0.000422831	0	0
TEX14	56155	broad.mit.edu	37	17	56682489	56682489	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:56682489C>T	uc010dcz.2	-	11	1321	c.1203_splice	c.e11-1	p.S401_splice	TEX14_uc002iwr.2_Splice_Site_p.S395_splice|TEX14_uc002iws.2_Splice_Site_p.S395_splice|TEX14_uc010dda.2_Splice_Site_p.S175_splice	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	401	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCTGTCCTCGCTACGGAAG	0.488000														17			4		0	0	0.00116845	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029439	38029439	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:38029439C>T	uc003onx.3	+	2	598	c.183C>T	c.(181-183)tcC>tcT	p.S61S		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	61							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						ATTTGTTTTCCGAAGAGACCA	0.433000														44			12		0	0	0.00136819	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596100	97596100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:97596100C>T	uc003drx.3	+	0	282	c.218C>T	c.(217-219)aCa>aTa	p.T73I	CRYBG3_uc021xbn.1_Missense_Mutation_p.T73I					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GCAAGACAAACACAGTCTGTC	0.418000														41			11		0	0	0.000673444	0	0
MKRN3	7681	broad.mit.edu	37	15	23811099	23811099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:23811099C>T	uc001ywh.4	+	0	646	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MKRN3_uc001ywi.3_Missense_Mutation_p.P57L|MKRN3_uc010ayi.1_Missense_Mutation_p.P57L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	57						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCTGGGCCCCCTTCCCTGTA	0.687000														26			7		0	0	8.12818e-05	0	0
KRT78	196374	broad.mit.edu	37	12	53240070	53240070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:53240070C>T	uc001sbc.1	-	3	731	c.667G>A	c.(667-669)Gat>Aat	p.D223N		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	223	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAACCCCATCCACATCCTGG	0.517000														40			5		0	0	8.12818e-05	0	0
AKAP3	10566	broad.mit.edu	37	12	4735856	4735856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:4735856G>A	uc001qnb.4	-	3	2456	c.2212C>T	c.(2212-2214)Cat>Tat	p.H738Y		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	738					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATTTCATTATGGATAGCTTGA	0.502000														56			10		0	0	0.000442599	0	0
TCRA	0	broad.mit.edu	37	14	22293998	22293998	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:22293998C>T	uc001wbw.2	+	1	111	c.102C>T	c.(100-102)atC>atT	p.I34I	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		CCCTGATCATCCTGGAGGGAA	0.448000														56			9		0	0	0.000442599	0	0
NPC1	4864	broad.mit.edu	37	18	21121366	21121367	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:21121366_21121367GG>AA	uc002kum.4	-	14	2550_2551	c.2276_2277CC>TT	c.(2275-2277)acc>aTT	p.T759I	NPC1_uc010xaz.2_Missense_Mutation_p.T492I|NPC1_uc010xba.1_Missense_Mutation_p.T604I	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	759	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGAGAGAAGGTGTGCACGGC	0.510000														29			16		0	0	6.4e-05	0	0
PGAP2	27315	broad.mit.edu	37	11	3845143	3845143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:3845143G>A	uc010qxw.2	+	4	575	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	PGAP2_uc001lyl.3_Missense_Mutation_p.A84T|PGAP2_uc010qxy.2_Missense_Mutation_p.A123T|PGAP2_uc001lyn.4_Missense_Mutation_p.S19N|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Missense_Mutation_p.S69N|PGAP2_uc001lys.3_Missense_Mutation_p.A127T|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Missense_Mutation_p.A66T	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	127					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GGTGAGCTCAGCCATCGGCGG	0.627000														67			15		0	0	0.000422831	0	0
CNTD1	124817	broad.mit.edu	37	17	40955691	40955691	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:40955691C>T	uc002ibm.4	+	1	455	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	CNTD1_uc010wha.2_5'UTR	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	75	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGTGAGCTACCAGGCTGTAGA	0.418000														155			33		0	0	0.00170553	0	0
SEPT12	124404	broad.mit.edu	37	16	4833519	4833519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:4833519G>A	uc002cxq.3	-	6	934	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	SEPT12_uc002cxr.3_Missense_Mutation_p.P178S|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	224					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CACATCTGGGGGTAGACGTCG	0.602000														93			25		0	0	0.000720815	0	0
VSIG2	23584	broad.mit.edu	37	11	124618286	124618286	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:124618286C>T	uc001qas.3	-	6	927	c.851_splice	c.e6+1	p.R284_splice	VSIG2_uc001qat.3_Missense_Mutation_p.R284Q	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	284						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCTGCTCACCGAAGGTCACT	0.577000														38			10		0	0	0.000978159	0	0
GAB2	9846	broad.mit.edu	37	11	77931468	77931468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:77931468G>A	uc001ozh.3	-	8	1886	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L	GAB2_uc001ozg.3_Missense_Mutation_p.P557L	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	595					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			ACTGGGAACGGGAGATGCAGA	0.567000														56			10		0	0	0.000978159	0	0
ZNF217	7764	broad.mit.edu	37	20	52198351	52198351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:52198351C>T	uc002xwq.4	-	0	1357	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	ZNF217_uc010gij.1_Missense_Mutation_p.G331S	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	339					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCACAACTGCCCTTATTTGTT	0.537000														101			13		0	0	0.00185496	0	0
EIF4A1	1973	broad.mit.edu	37	17	7476160	7476160	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:7476160A>G	uc002gho.2	+	11	2564	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	EIF4A1_uc002ghr.1_Missense_Mutation_p.M1V|SNORA48_uc002ghs.1_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	1					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCTAAGGATCATGTCTGCGAG	0.627000														132			25		0	0	0.001512	0	0
CD84	8832	broad.mit.edu	37	1	160523806	160523806	+	Silent	SNP	T	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:160523806T>C	uc001fwh.4	-	2	598	c.519A>G	c.(517-519)gaA>gaG	p.E173E	CD84_uc001fwf.4_Silent_p.E173E|CD84_uc009wtn.3_Silent_p.E173E|CD84_uc001fwi.4_Silent_p.E59E|CD84_uc001fwg.4_Silent_p.E173E|CD84_uc001fwj.3_Silent_p.E173E|CD84_uc001fwk.3_Silent_p.E173E	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	173	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATTACCCTCTTCTCCCAGGG	0.458000														75			13		0	0	0.000566183	0	0
CYP3A4	1576	broad.mit.edu	37	7	99366043	99366043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:99366043G>A	uc003urv.2	-	6	711	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	CYP3A4_uc003urw.2_Missense_Mutation_p.P202S|CYP3A4_uc011kiz.2_Missense_Mutation_p.P161S	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	202					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCCACAAAGGGGTCTTGTGGA	0.393000														62			13		0	0	0.000219431	0	0
KCNA6	3742	broad.mit.edu	37	12	4919960	4919960	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:4919960C>T	uc001qng.3	+	0	1619	c.753C>T	c.(751-753)ctC>ctT	p.L251L	KCNA6_uc021qtr.1_Silent_p.L251L	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCTCCTCACTCAGTACTCTTG	0.562000										HNSCC(72;0.22)				97			10		0	0	0.000673444	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528897	102528897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:102528897C>T	uc022cbm.1	-	0	595	c.595G>A	c.(595-597)Gac>Aac	p.D199N	TCEAL5_uc004ejz.2_Missense_Mutation_p.D199N	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 5 (TCEAL5), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTTCTAAGTCTTTCTGGCCC	0.507000														27			17		0	0	0.000422831	0	0
TTLL9	164395	broad.mit.edu	37	20	30486300	30486300	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:30486300C>T	uc010gdx.1	+	3	391	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Nonsense_Mutation_p.Q56*|TTLL9_uc010ztp.1_Non-coding_Transcript|U1_uc021wbu.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	46	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGATCCGGTTCAAGACCACCC	0.527000														61			15		0	0	0.00121646	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650696	232650696	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:232650696G>A	uc001hvg.3	-	0	548	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	130					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGTCCAGATCGAGCTGTTCAT	0.507000														116			19		0	0	0.00121646	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324795	86324795	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:86324795G>A	uc003pla.2	-	10	2092	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P	SYNCRIP_uc003pku.3_Silent_p.P517P|SYNCRIP_uc003pkv.3_Silent_p.P517P|SYNCRIP_uc003pkw.3_Silent_p.P482P|SYNCRIP_uc003pkx.3_Silent_p.P365P|SYNCRIP_uc003pky.3_Silent_p.P419P|SYNCRIP_uc003pkz.2_Silent_p.P482P	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	517	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTCTACCGCGGGGAGGAGCAG	0.577000														70			15		0	0	0.00074312	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821039	35821039	+	Silent	SNP	C	T	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:35821039C>T	uc010ngt.1	+	1	1005	c.726C>T	c.(724-726)atC>atT	p.I242I	MAGEB16_uc022bus.1_Silent_p.I242I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	242	MAGE.							p.A241V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCACTTCATCTTTGGAGAGC	0.488000														22			11		0	0	0.000673444	0	0
NOD1	10392	broad.mit.edu	37	7	30492184	30492184	+	Silent	SNP	G	A	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:30492184G>A	uc003tav.3	-	5	1372	c.849C>T	c.(847-849)ttC>ttT	p.F283F	NOD1_uc010kvs.2_Missense_Mutation_p.S238L	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	283	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCAGGCCATCGAAGGTGAAGA	0.657000														36			17		0	0	0.000422831	0	0
C20orf43	51507	broad.mit.edu	37	20	55049738	55049738	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:55049738T>C	uc010zzf.1	+	3	366	c.259T>C	c.(259-261)Tat>Cat	p.Y87H	C20orf43_uc002xxt.2_Missense_Mutation_p.Y57H|C20orf43_uc002xxu.2_Missense_Mutation_p.Y57H	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.	57										breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10			Colorectal(105;0.202)			TTGCAGACTTTATAACAAAGA	0.353000														176			39		0	0	0.000437636	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	CTG	CTG	rs35574083		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:55505552_55505553insCTG	uc001cyf.2	+	0	404_405	c.42_43insCTG	c.(40-45)insCTG	p.23_24insL	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													---	82	---	---	25	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	285	---	---	8	---					
CDK18	5129	broad.mit.edu	37	1	205493374	205493375	+	Frame_Shift_Ins	INS	-	CT	CT	rs61733643	byFrequency	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:205493374_205493375insCT	uc001hcr.3	+	3	640_641	c.378_379insCT	c.(376-381)aggctcfs	p.R126fs	CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Frame_Shift_Ins_p.A117fs|CDK18_uc001hcp.3_Frame_Shift_Ins_p.R96fs|CDK18_uc001hcq.3_Frame_Shift_Ins_p.R96fs|CDK18_uc010prj.2_Frame_Shift_Ins_p.R7fs|CDK18_uc001hcs.3_Frame_Shift_Ins_p.R7fs|CDK18_uc009xbm.1_Frame_Shift_Ins_p.R7fs	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	94							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TCAGCAAGAGGCTCTCTCTGCC	0.594											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	86	---	---	18	---					
ZAN	7455	broad.mit.edu	37	7	100334934	100334934	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:100334934delT	uc003uwj.3	+	5	740	c.575delT	c.(574-576)ctgfs	p.L192fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.L192fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	192	MAM 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.A191T(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACATCGCCCTGGATGCCCTC	0.627													---	4	---	---	2	---					
LARP4B	23185	broad.mit.edu	37	10	871151	871151	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:871151delA	uc001ifs.1	-	11	1379	c.1338delT	c.(1336-1338)attfs	p.I446fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	446							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGACACCATTAATTAATCGAT	0.473													---	170	---	---	36	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:70156583delT	uc001job.3	-	3	784	c.457delA	c.(457-459)atgfs	p.M153fs	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Intron|RUFY2_uc010qiw.2_Frame_Shift_Del_p.M60fs|RUFY2_uc001jod.1_Frame_Shift_Del_p.M118fs|RUFY2_uc009xpv.1_Frame_Shift_Del_p.M1fs|RUFY2_uc001joe.1_Frame_Shift_Del_p.M118fs	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													---	88	---	---	7	---					
ESD	2098	broad.mit.edu	37	13	47354112	47354112	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:47354112delT	uc001vbn.3	-	7	741	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_uc001vbp.1_Frame_Shift_Del_p.K44fs	NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	186						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353													---	227	---	---	8	---					
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:45003781_45003782delCT	uc001zuc.3	+	0	97_98	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.L13F(2)|p.L12Q(1)|p.A11fs*42(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614													---	61	---	---	7	---					
MAP2K2	5605	broad.mit.edu	37	19	4099253	4099255	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:4099253_4099255delCTT	uc002lzk.3	-	6	1117_1119	c.863_865delAAG	c.(862-867)gaagga>gga	p.E288del	MAP2K2_uc002lzj.3_In_Frame_Del_p.E98del	NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	288	Pro-rich.|Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGCTCTCCTTCTTCCCCGTC	0.700													---	8	---	---	4	---					
CEP250	11190	broad.mit.edu	37	20	34059970	34059976	+	Frame_Shift_Del	DEL	AACCCAG	-	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:34059970_34059976delAACCCAG	uc021wco.1	+	10	1691_1697	c.1044_1050delAACCCAG	c.(1042-1050)ataacccagfs	p.I348fs	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	348					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCAAGGATATAACCCAGGTACTGGGAA	0.469													---	112	---	---	12	---