Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SCN8A	6334	broad.mit.edu	37	12	52115638	52115638	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:52115638G>T	ENST00000354534.5	+	12	2122	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	SCN8A_ENST00000545061.1_Silent_p.V648V|SCN8A_ENST00000550891.1_Silent_p.V648V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	648					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAACGGCGTGGTGTCCCTCA	0.647000													18	69					4.35082e-09	1.02791e-08	0.001523	1	0
ACVR1	90	broad.mit.edu	37	2	158594062	158594062	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158594062T>A	ENST00000263640.3	-	11	1940	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	ACVR1_ENST00000410057.2_Missense_Mutation_p.K504I|ACVR1_ENST00000409283.2_Missense_Mutation_p.K504I|ACVR1_ENST00000434821.1_Missense_Mutation_p.K504I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	504					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGTTTTCAATTTGTCGAGGGA	0.418000													8	46					0	0	0.003080	0	0
FGF10	2255	broad.mit.edu	37	5	44310549	44310549	+	Missense_Mutation	SNP	T	T	C	rs104893887		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:44310549T>C	ENST00000264664.4	-	2	523	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	137					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGTTTCCCCTTCTTGTTCATG	0.388000													9	38					0	0	0.006214	0	0
TEP1	7011	broad.mit.edu	37	14	20874489	20874489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:20874489C>T	ENST00000262715.5	-	3	678	c.638G>A	c.(637-639)gGa>gAa	p.G213E	TEP1_ENST00000556935.1_Missense_Mutation_p.G213E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	213					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTCCTCCTCTCCCAAGCTCAG	0.502000													25	82					0	0	0.003330	0	0
TGM3	7053	broad.mit.edu	37	20	2312716	2312716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2312716G>A	ENST00000381458.5	+	10	1465	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	468		Cleavage; by CTSL.			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCCATTTGCCGCGACGTCTTC	0.517000													6	60					0	0	0.001168	0	0
ANO4	121601	broad.mit.edu	37	12	101442142	101442142	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:101442142A>T	ENST00000392979.3	+	13	1531	c.1170A>T	c.(1168-1170)ggA>ggT	p.G390G	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392977.3_Silent_p.G425G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	425						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						TTGACAATGGAGCCACTGTCT	0.348000										HNSCC(74;0.22)			13	42					0	0	0.001855	0	0
RNF135	84282	broad.mit.edu	37	17	29326072	29326072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:29326072G>T	ENST00000328381.5	+	5	2035	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	388	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGGAAAGCTTGCCTTCTATTC	0.527000													7	96					2.0095e-06	4.44842e-06	0.001984	1	0
PYDC1	260434	broad.mit.edu	37	16	31228118	31228118	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31228118T>C	ENST00000302964.3	-	1	562	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	78	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCTCCAACATGCGCATGTCG	0.662000													16	53					0	0	0.004007	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190366	57190366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:57190366G>A	ENST00000504228.1	+	8	3580	c.3475G>A	c.(3475-3477)Gca>Aca	p.A1159T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1159T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1152T			Q6ZU35	K1211_HUMAN	KIAA1211	1159										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCCGAGACTGCAGTGTCCAG	0.547000													19	60					0	0	0.006122	0	0
TEX15	56154	broad.mit.edu	37	8	30703870	30703870	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:30703870T>C	ENST00000256246.2	-	1	2738	c.2664A>G	c.(2662-2664)atA>atG	p.I888M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	888										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCATCATCTATTGTTGTGA	0.328000													15	53					0	0	0.003163	0	0
KCNMA1	3778	broad.mit.edu	37	10	79163662	79163662	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:79163662C>A	ENST00000286627.5	-	2	1450	c.498G>T	c.(496-498)gcG>gcT	p.A166A	KCNMA1_ENST00000404857.1_Silent_p.A166A|KCNMA1_ENST00000354353.5_Silent_p.A166A|KCNMA1_ENST00000286628.8_Silent_p.A166A|KCNMA1_ENST00000372440.1_Silent_p.A166A|KCNMA1_ENST00000372443.1_Silent_p.A166A|KCNMA1_ENST00000404771.3_Silent_p.A166A|KCNMA1_ENST00000406533.3_Silent_p.A166A	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	166					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)	TCATCACCCCCGCCCAGTCCT	0.607000													7	27					0.00198382	0.00403759	0.001984	1	0
DBX2	440097	broad.mit.edu	37	12	45429852	45429852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:45429852G>T	ENST00000332700.6	-	2	620	c.449C>A	c.(448-450)gCg>gAg	p.A150E		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		accgcagcacgccgagtagaa	0.463000													5	27					2.0095e-06	4.44842e-06	0.001984	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899643	112899643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:112899643G>C	ENST00000374530.3	+	8	1999	c.1819G>C	c.(1819-1821)Gtc>Ctc	p.V607L	AKAP2_ENST00000555236.1_Missense_Mutation_p.V607L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V607L|AKAP2_ENST00000259318.7_Missense_Mutation_p.V376L|AKAP2_ENST00000434623.2_Missense_Mutation_p.V465L|AKAP2_ENST00000374525.1_Missense_Mutation_p.V465L|AKAP2_ENST00000510514.5_Missense_Mutation_p.V607L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		376							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACCACCTTCTGTCGGGGGACC	0.607000													64	57					0	0	0.003610	0	0
CEP290	80184	broad.mit.edu	37	12	88487640	88487640	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:88487640C>A	ENST00000552810.1	-	28	3559	c.3216G>T	c.(3214-3216)cgG>cgT	p.R1072R	CEP290_ENST00000309041.7_Silent_p.R1074R|CEP290_ENST00000397838.3_Silent_p.R132R|CEP290_ENST00000547691.2_Silent_p.R132R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AATGTTCAGCCCGCTGCCTTT	0.348000													14	28					4.3838e-07	9.94975e-07	0.001855	1	0
APOB	338	broad.mit.edu	37	2	21231924	21231924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:21231924C>T	ENST00000233242.1	-	26	7943	c.7816G>A	c.(7816-7818)Gct>Act	p.A2606T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2606					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTGAAGAGCCTGAAGACTG	0.418000													28	65					0	0	0.005443	0	0
EXPH5	23086	broad.mit.edu	37	11	108383615	108383615	+	Silent	SNP	C	C	A	rs114840330	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:108383615C>A	ENST00000265843.4	-	6	2729	c.2619G>T	c.(2617-2619)tcG>tcT	p.S873S	EXPH5_ENST00000443411.1_Silent_p.S685S|EXPH5_ENST00000525344.1_Silent_p.S866S|EXPH5_ENST00000428840.1_Silent_p.S797S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	873					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413000													34	96					1.36161e-19	3.7807e-19	0.004289	1	0
CHST6	4166	broad.mit.edu	37	16	75513529	75513529	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:75513529G>C	ENST00000332272.4	-	3	377	c.198C>G	c.(196-198)gtC>gtG	p.V66V	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.V66V	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	66			V -> L (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTAGGTAGAAGACGTCGGGGT	0.687000													14	37					0	0	0.001855	0	0
OR51G2	81282	broad.mit.edu	37	11	4935987	4935987	+	Nonsense_Mutation	SNP	G	G	A	rs150667862	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4935987G>A	ENST00000322013.3	-	1	935	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCGGATCTGTTTGGTCTTC	0.478000													12	19					0	0	0.000978	0	0
CTCF	10664	broad.mit.edu	37	16	67660581	67660581	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:67660581G>T	ENST00000264010.4	+	8	1925	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L	CTCF_ENST00000401394.1_Missense_Mutation_p.R166L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	494					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AATGAGAAGCGCTTTAAGTGT	0.453000													10	38					4.68919e-08	1.07945e-07	0.000673	1	0
THSD7B	80731	broad.mit.edu	37	2	137814036	137814036	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137814036G>T	ENST00000409968.1	+	3	364	c.186G>T	c.(184-186)caG>caT	p.Q62H	THSD7B_ENST00000413152.2_Missense_Mutation_p.Q31H|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q62H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498000													14	51					8.60227e-14	2.21358e-13	0.004007	1	0
PCDHA6	56142	broad.mit.edu	37	5	140207985	140207985	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140207985C>T	ENST00000529310.1	+	1	423	c.309C>T	c.(307-309)agC>agT	p.S103S	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S103S|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S103R(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.587000													58	152					0	0	0.003610	0	0
NPLOC4	55666	broad.mit.edu	37	17	79589283	79589283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79589283G>A	ENST00000374747.5	-	3	247	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	NPLOC4_ENST00000331134.6_Nonsense_Mutation_p.Q40*|NPLOC4_ENST00000539314.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	40					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCATTATTTTGGAAGCCAAAC	0.388000													9	77					0	0	0.004482	0	0
RBX1	9978	broad.mit.edu	37	22	41349628	41349628	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41349628A>G	ENST00000216225.8	+	2	188	c.148A>G	c.(148-150)Atg>Gtg	p.M50V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	50					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						GAACCACATTATGGATCTTTG	0.453000													22	86					0	0	0.002299	0	0
AASS	10157	broad.mit.edu	37	7	121756934	121756934	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:121756934T>A	ENST00000393376.1	-	6	860	c.766_splice	c.e6+1	p.G255_splice	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Splice_Site_p.G255_splice			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	255	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTCCCTTACCTCCAGTTTGGG	0.328000													31	70					0	0	0.001786	0	0
AKAP9	10142	broad.mit.edu	37	7	91724387	91724387	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:91724387T>G	ENST00000359028.2	+	40	9866	c.9641T>G	c.(9640-9642)tTa>tGa	p.L3214*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.L3210*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.L3160*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3214					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGACACATTAGCAAGTGAA	0.388000			T	BRAF	papillary thyroid								4	45					0	0	0.000248	0	0
THSD7B	80731	broad.mit.edu	37	2	137852609	137852609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137852609A>G	ENST00000409968.1	+	4	1295	c.1117A>G	c.(1117-1119)Att>Gtt	p.I373V	THSD7B_ENST00000413152.2_Missense_Mutation_p.I342V|THSD7B_ENST00000543459.1_Missense_Mutation_p.I232V|THSD7B_ENST00000272643.3_Missense_Mutation_p.I373V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACATGGCTATTGGAGGTGG	0.537000													12	41					0	0	0.000978	0	0
CARM1	10498	broad.mit.edu	37	19	11032328	11032328	+	Silent	SNP	G	G	T	rs149968022	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:11032328G>T	ENST00000327064.4	+	16	1912	c.1722G>T	c.(1720-1722)acG>acT	p.T574T	CARM1_ENST00000344150.4_Silent_p.T551T	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTGGCAGCACGAGTGCCCACT	0.677000													19	62					4.63292e-17	1.25618e-16	0.001216	1	0
XIST	7503	broad.mit.edu	37	X	73068472	73068472	+	RNA	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:73068472G>T	ENST00000429829.1	-	0	4116					NR_001564.2																						AACTGTTCAAGAGCTGTTATT	0.423000													9	16					0.00448238	0.00900936	0.004482	1	0
SLC7A9	11136	broad.mit.edu	37	19	33353084	33353084	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:33353084T>C	ENST00000023064.4	-	6	835	c.644A>G	c.(643-645)cAg>cGg	p.Q215R	SLC7A9_ENST00000587772.1_Missense_Mutation_p.Q215R|SLC7A9_ENST00000590341.1_Missense_Mutation_p.Q215R	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	215					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGACAGCTGGGCGCCCTC	0.537000													16	71					0	0	0.003163	0	0
WDR12	55759	broad.mit.edu	37	2	203747437	203747437	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:203747437T>C	ENST00000261015.3	-	12	1940	c.1191A>G	c.(1189-1191)acA>acG	p.T397T		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	397	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTCTTACCCCTGTGTCTGTCC	0.363000													3	103					0	0	0.000248	0	0
ERBB2	2064	broad.mit.edu	37	17	37884229	37884229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:37884229C>T	ENST00000406381.2	+	29	4120	c.3610C>T	c.(3610-3612)Ccc>Tcc	p.P1204S	ERBB2_ENST00000445658.2_Missense_Mutation_p.P958S|ERBB2_ENST00000269571.5_Missense_Mutation_p.P1234S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P1204S|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.P1219S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P1204S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1234					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGGGCTCCACCCAGCACCTT	0.632000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			12	68					0	0	0.000978	0	0
WDR66	144406	broad.mit.edu	37	12	122396265	122396265	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:122396265G>A	ENST00000288912.4	+	12	2672	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	WDR66_ENST00000397454.2_Silent_p.K606K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	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													40	134					0	0	0.006999	0	0
CHD6	84181	broad.mit.edu	37	20	40118659	40118659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:40118659T>C	ENST00000373233.3	-	12	1616	c.1439A>G	c.(1438-1440)aAa>aGa	p.K480R	CHD6_ENST00000309279.7_Missense_Mutation_p.K480R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	480	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATACAGTTTTTTCTGCAGAG	0.378000													51	112					0	0	0.003610	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378976	142378976	+	RNA	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:142378976G>A	ENST00000390398.3	+	0	281																											TCTTTCCTCTGAGTCAACAGT	0.473000													15	94					0	0	0.002450	0	0
NCOA4	8031	broad.mit.edu	37	10	51585571	51585571	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:51585571A>T	ENST00000452682.1	+	9	1970	c.1718A>T	c.(1717-1719)gAc>gTc	p.D573V	NCOA4_ENST00000443446.1_Missense_Mutation_p.D557V|NCOA4_ENST00000344348.6_Missense_Mutation_p.D557V|NCOA4_ENST00000438493.1_Missense_Mutation_p.D573V|NCOA4_ENST00000430396.2_Missense_Mutation_p.D457V|NCOA4_ENST00000374087.4_Missense_Mutation_p.D557V|NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000414907.2_Missense_Mutation_p.D391V	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	557					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCTGGAGAAGACAAGTGGCTG	0.433000			T	RET	papillary thyroid								30	60					0	0	0.001512	0	0
GPR158	57512	broad.mit.edu	37	10	25887011	25887011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:25887011G>T	ENST00000376351.3	+	11	2815	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	819						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAATCCCACAGCACTTATGAC	0.512000													22	135					2.08468e-23	5.99438e-23	0.001882	1	0
OR10G8	219869	broad.mit.edu	37	11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542000													18	95					0	0	0.002299	0	0
CPB2	1361	broad.mit.edu	37	13	46661882	46661882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:46661882C>A	ENST00000181383.4	-	2	164	c.148G>T	c.(148-150)Gag>Tag	p.E50*	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.E50*	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	50					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAATTACCTCATATGTTGTA	0.378000													28	37					2.61193e-14	6.80787e-14	0.001786	1	0
CEACAM3	1084	broad.mit.edu	37	19	42312886	42312886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:42312886G>A	ENST00000357396.3	+	3	701	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A154T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	154						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GGGGGCCGTCGCCGGCATCGT	0.607000													7	250					0	0	0.001984	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995219	140995219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:140995219C>A	ENST00000285879.4	+	4	2315	c.2029C>A	c.(2029-2031)Cag>Aag	p.Q677K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	677							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)					ATCTCCTCTCCAGAGTCCTGA	0.562000										HNSCC(15;0.026)			53	96					6.08268e-21	1.71248e-20	0.003610	1	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				4	37					0	0	0.000248	0	0
MPL	4352	broad.mit.edu	37	1	43803901	43803901	+	Splice_Site	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43803901C>A	ENST00000372470.3	+	2	253	c.212_splice	c.e2+1	p.R71_splice	MPL_ENST00000413998.2_Splice_Site_p.R71_splice	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	71					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.R71W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCTACCCGCGGTAGGTGCT	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						7	36					0.00448238	0.00900936	0.004482	1	0
CCDC27	148870	broad.mit.edu	37	1	3686432	3686432	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:3686432A>T	ENST00000294600.2	+	11	1913	c.1829A>T	c.(1828-1830)gAc>gTc	p.D610V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	610								p.I611fs*17(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTGACAATGACATCCTGGAA	0.577000													14	60					0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152278877	152278877	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:152278877G>T	ENST00000368799.1	-	3	8520	c.8485C>A	c.(8485-8487)Cgt>Agt	p.R2829S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2829	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCCCACGGGAGGCATCA	0.572000									Ichthyosis				8	604					0.00448238	0.00900936	0.004482	1	0
CACNG6	59285	broad.mit.edu	37	19	54515287	54515287	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54515287G>T	ENST00000252729.2	+	4	1217	c.627G>T	c.(625-627)ccG>ccT	p.P209P	CACNG6_ENST00000352529.1_Silent_p.P138P|CACNG6_ENST00000346968.2_Silent_p.P163P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	209						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCCTCCCCCGGCCCCACGCC	0.692000													15	60					3.41278e-10	8.3309e-10	0.004990	1	0
TTN	7273	broad.mit.edu	37	2	179411994	179411994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179411994C>T	ENST00000589042.1	-	340	94482	c.94258G>A	c.(94258-94260)Gtg>Atg	p.V31420M	TTN_ENST00000342992.6_Missense_Mutation_p.V28852M|TTN_ENST00000359218.5_Missense_Mutation_p.V22480M|TTN_ENST00000591111.1_Missense_Mutation_p.V29779M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22547M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22355M|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29779	Fibronectin type-III 129.						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)			TTGGCAGACACATGGTAGACC	0.398000													42	127					0	0	0.001706	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:160206241G>A	ENST00000392783.2	-	28	5336	c.4841C>T	c.(4840-4842)cCa>cTa	p.P1614L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1578L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1580L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1514L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAAAGCAAATGGATTTAAGCC	0.433000													7	36					0	0	0.003080	0	0
SNX6	58533	broad.mit.edu	37	14	35072621	35072621	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:35072621C>T	ENST00000396526.3	-	5	597	c.101G>A	c.(100-102)cGt>cAt	p.R34H	SNX6_ENST00000355110.5_Missense_Mutation_p.R38H|SNX6_ENST00000362031.4_Missense_Mutation_p.R162H|SNX6_ENST00000396534.3_Missense_Mutation_p.R34H			Q9UNH7	SNX6_HUMAN	sorting nexin 6	150	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TGCTGCCACACGACACAGGAA	0.343000													5	21					0	0	0.001984	0	0
FRMD7	90167	broad.mit.edu	37	X	131212468	131212468	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:131212468G>T	ENST00000298542.4	-	12	1752	c.1577C>A	c.(1576-1578)aCt>aAt	p.T526N	FRMD7_ENST00000370879.1_Missense_Mutation_p.T406N|FRMD7_ENST00000464296.1_Missense_Mutation_p.T511N	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	526					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTCATTGCAGTGGGCTCTAC	0.498000													70	128					7.07328e-35	2.07073e-34	0.003610	1	0
NFATC2	4773	broad.mit.edu	37	20	50140492	50140492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:50140492C>G	ENST00000371564.3	-	2	507	c.288G>C	c.(286-288)aaG>aaC	p.K96N	NFATC2_ENST00000396009.3_Missense_Mutation_p.K96N|NFATC2_ENST00000414705.1_Missense_Mutation_p.K76N	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	96					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGCTCAGAAACTTCTGCGGCC	0.657000													13	57					0	0	0.001855	0	0
ZC3H18	124245	broad.mit.edu	37	16	88688786	88688786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88688786A>T	ENST00000301011.5	+	9	1857	c.1657A>T	c.(1657-1659)Aat>Tat	p.N553Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.N577Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	553	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCTGCCTCTAATTCCTCCAG	0.622000													4	21					0	0	0.000248	0	0
CPNE6	9362	broad.mit.edu	37	14	24543809	24543809	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:24543809G>C	ENST00000397016.2	+	7	879	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	CPNE6_ENST00000216775.2_Missense_Mutation_p.V190L|CPNE6_ENST00000537691.1_Missense_Mutation_p.V245L			O95741	CPNE6_HUMAN	copine VI (neuronal)	190	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGATCAGCTGGTCTGGAGAAC	0.517000													8	60					0	0	0.004482	0	0
FSHR	2492	broad.mit.edu	37	2	49189901	49189901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49189901C>G	ENST00000406846.2	-	10	2178	c.2059G>C	c.(2059-2061)Gtc>Ctc	p.V687L	FSHR_ENST00000346173.3_Missense_Mutation_p.V625L|FSHR_ENST00000541117.1_Missense_Mutation_p.V423L|FSHR_ENST00000304421.4_Missense_Mutation_p.V661L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	687					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTAGAGGGACAAGTATGTAA	0.418000									Gonadal Dysgenesis, 46 XX				13	44					0	0	0.001855	0	0
CLIP3	25999	broad.mit.edu	37	19	36515346	36515346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36515346G>T	ENST00000360535.4	-	7	1097	c.870C>A	c.(868-870)agC>agA	p.S290R	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S290R	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	290					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCCAGTGCGCTAAGCATGA	0.622000													22	47					3.8784e-16	1.04458e-15	0.001882	1	0
NAALAD2	10003	broad.mit.edu	37	11	89902135	89902135	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:89902135T>A	ENST00000534061.1	+	12	1547	c.1317T>A	c.(1315-1317)taT>taA	p.Y439*	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.Y406*	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	439	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCATTGCTTATATCAACTCGG	0.284000													16	34					0	0	0.004990	0	0
TKTL1	8277	broad.mit.edu	37	X	153533683	153533683	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:153533683T>A	ENST00000369915.3	+	2	351	c.162T>A	c.(160-162)tcT>tcA	p.S54S	TKTL1_ENST00000369912.2_5'UTR|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	54					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTTCTTCTGAGATCATGT	0.498000													21	43					0	0	0.001216	0	0
GABRA5	2558	broad.mit.edu	37	15	27185148	27185148	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:27185148C>G	ENST00000335625.5	+	9	1689	c.801C>G	c.(799-801)ccC>ccG	p.P267P	GABRA5_ENST00000355395.5_Silent_p.P267P|GABRA5_ENST00000400081.3_Silent_p.P267P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	267					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTACCTTCCCTGCATAATGA	0.493000													11	16					0	0	0.000673	0	0
FSHB	2488	broad.mit.edu	37	11	30253578	30253578	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:30253578C>T	ENST00000417547.1	+	2	168	c.129C>T	c.(127-129)acC>acT	p.T43T	FSHB_ENST00000254122.3_Silent_p.T43T|FSHB_ENST00000533718.1_Silent_p.T43T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	43					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GCATCAACACCACTTGGTGTG	0.458000													15	51					0	0	0.004990	0	0
INO80D	54891	broad.mit.edu	37	2	206869167	206869167	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:206869167A>G	ENST00000403263.1	-	11	3413	c.3009T>C	c.(3007-3009)ccT>ccC	p.P1003P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAAGCCTGTAGGAGGGGCTA	0.547000													3	11					0	0	0.004672	0	0
RNF11	26994	broad.mit.edu	37	1	51735628	51735628	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:51735628G>C	ENST00000242719.3	+	2	610	c.123_splice	c.e2-1	p.E42_splice	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	42					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						AATATTTTAGGAACAAGTTCC	0.413000													7	33					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410214	105410214	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:105410214G>A	ENST00000333244.5	-	7	11693	c.11574C>T	c.(11572-11574)gcC>gcT	p.A3858A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3858						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTCAGGTCGGCAGAATGGG	0.632000													60	193					0	0	0.003610	0	0
ZNF792	126375	broad.mit.edu	37	19	35449469	35449469	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:35449469G>C	ENST00000404801.1	-	4	1676	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L	ZNF792_ENST00000605484.1_Missense_Mutation_p.F363L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCTGAAGAATTTCCCAC	0.483000													29	71					0	0	0.001512	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976392	14976392	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:14976392T>A	ENST00000453695.2	-	8	749	c.305A>T	c.(304-306)gAa>gTa	p.E102V	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E222V|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E222V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E102V	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	222					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GACTCCTAATTCTTCACTAAG	0.438000								Non-homologous end-joining					28	108					0	0	0.005443	0	0
SHPRH	257218	broad.mit.edu	37	6	146263002	146263002	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146263002T>G	ENST00000367503.3	-	10	2645	c.2247A>C	c.(2245-2247)caA>caC	p.Q749H	SHPRH_ENST00000438092.2_Missense_Mutation_p.Q749H|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q749H|SHPRH_ENST00000367505.2_Missense_Mutation_p.Q749H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	749	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCACTCCTTGATATACCT	0.343000													3	30					0	0	0.004672	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261971	21261971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:21261971C>T	ENST00000311620.5	+	2	1157	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	362	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAATTCCTGCCTATCTTCAA	0.522000													17	40					0	0	0.004990	0	0
PAGE3	139793	broad.mit.edu	37	X	55290291	55290291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:55290291C>G	ENST00000374951.1	-	2	354	c.46G>C	c.(46-48)Gat>Cat	p.D16H	PAGE3_ENST00000519203.1_Missense_Mutation_p.D16H					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						TCTTGATCATCTCTTCTTTCT	0.338000													11	25					0	0	0.000978	0	0
CCT6P3	643180	broad.mit.edu	37	7	64498812	64498812	+	RNA	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:64498812A>T	ENST00000426828.1	+	0	75					NR_033416.1																						CCCGGTATGCAGTGTGCGCTG	0.726000													6	26					0	0	0.001168	0	0
ITGAM	3684	broad.mit.edu	37	16	31340609	31340609	+	Missense_Mutation	SNP	G	G	T	rs61758333		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31340609G>T	ENST00000544665.3	+	24	2927	c.2856G>T	c.(2854-2856)atG>atT	p.M952I	ITGAM_ENST00000287497.8_Missense_Mutation_p.M951I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	951					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCGGGTCATGCAGCATCAAT	0.502000													7	16					1.06961e-07	2.45525e-07	0.003080	1	0
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:233246046C>T	ENST00000392027.2	+	10	1547	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697000													10	33					0	0	0.000673	0	0
HECTD4	283450	broad.mit.edu	37	12	112605241	112605241	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:112605241C>G	ENST00000550722.1	-	72	12371	c.11976G>C	c.(11974-11976)ccG>ccC	p.P3992P	HECTD4_ENST00000430131.2_Silent_p.P3716P|HECTD4_ENST00000377560.5_Silent_p.P3966P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCAGGGGCAGCGGGACGTCTG	0.622000													17	57					0	0	0.004007	0	0
MKRN3	7681	broad.mit.edu	37	15	23811310	23811310	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23811310C>G	ENST00000314520.3	+	1	857	c.381C>G	c.(379-381)gcC>gcG	p.A127A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127						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)		GGAAGATGGCCACTGAGGGTG	0.607000													23	34					0	0	0.002299	0	0
CLDN12	9069	broad.mit.edu	37	7	90042423	90042423	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:90042423A>T	ENST00000535571.1	+	2	742	c.433A>T	c.(433-435)Act>Tct	p.T145S	CLDN12_ENST00000394605.2_Missense_Mutation_p.T145S|CLDN12_ENST00000287916.4_Missense_Mutation_p.T145S	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	145					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCTGGCAGGTACTGTGAGCCT	0.488000													10	110					0	0	0.000673	0	0
CRYGN	155051	broad.mit.edu	37	7	151127188	151127188	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151127188C>G	ENST00000337323.2	-	4	621	c.495G>C	c.(493-495)gaG>gaC	p.E165D	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	165										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTGGTGGCCTCTTCCGGTC	0.532000													18	63					0	0	0.004990	0	0
DNASE2	1777	broad.mit.edu	37	19	12991695	12991695	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12991695C>G	ENST00000222219.3	-	3	360		c.e3-1		DNASE2_ENST00000538460.1_Splice_Site	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGAAGGCGAGCTGCGGGCGGA	0.632000													14	72					0	0	0.002450	0	0
COX7A2L	9167	broad.mit.edu	37	2	42580403	42580403	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:42580403C>A	ENST00000378669.1	-	3	982	c.153G>T	c.(151-153)gtG>gtT	p.V51V	COX7A2L_ENST00000463055.1_Silent_p.V51V|COX7A2L_ENST00000234301.2_Silent_p.V51V|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	51					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						CATAATCATACACTGTGGAAT	0.403000													16	57					2.23348e-06	4.93075e-06	0.004007	1	0
DUSP27	92235	broad.mit.edu	37	1	167097477	167097477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:167097477C>T	ENST00000361200.2	+	6	3275	c.3109C>T	c.(3109-3111)Cca>Tca	p.P1037S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P1037S|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1037S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1037					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGGAGAGCCCAGAGCCCTA	0.587000													19	23					0	0	0.006122	0	0
ZW10	9183	broad.mit.edu	37	11	113630936	113630936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:113630936G>C	ENST00000200135.3	-	5	719	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	192	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGCACCTTTTGATGGTGGGAA	0.423000													15	35					0	0	0.004007	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24200851	24200851	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:24200851A>G	ENST00000382263.3	+	5	549	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.Y122C|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.Y122C	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	122					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTAGATTTTATAGGAAGACG	0.443000													14	33					0	0	0.001855	0	0
COL19A1	1310	broad.mit.edu	37	6	70861308	70861308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:70861308G>C	ENST00000322773.4	+	31	2159	c.2057G>C	c.(2056-2058)gGa>gCa	p.G686A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G308A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	686	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCTCTTGGGAGACATCGGT	0.308000													16	64					0	0	0.001882	0	0
RHOB	388	broad.mit.edu	37	2	20647664	20647664	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:20647664C>A	ENST00000272233.4	+	1	830	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	146					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGGCCGCGCCATGGCCGTGC	0.662000													44	94					9.39024e-22	2.66221e-21	0.002222	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90160878	90160878	+	RNA	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:90160878C>T	ENST00000564451.1	+	0	829				TUBB8P7_ENST00000567960.1_RNA																							CCGTCCTTCCCCCACCGCCCT	0.726000													9	17					0	0	0.004482	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524045	24524045	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:24524045C>A	ENST00000376862.3	+	2	945	c.312C>A	c.(310-312)gaC>gaA	p.D104E		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	104					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGGGGGGACGGTGTGGCCG	0.632000													25	61					2.79863e-10	6.89419e-10	0.004656	1	0
GALC	2581	broad.mit.edu	37	14	88401201	88401201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:88401201G>C	ENST00000261304.2	-	17	2039	c.1933C>G	c.(1933-1935)Ctg>Gtg	p.L645V	GALC_ENST00000544807.2_Intron|GALC_ENST00000393569.2_Missense_Mutation_p.L619V|GALC_ENST00000393568.4_Missense_Mutation_p.L622V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	645			L -> R (in GLD; adult).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTCATTCAGCATGCCAGAG	0.428000													10	30					0	0	0.006214	0	0
ILDR2	387597	broad.mit.edu	37	1	166904662	166904662	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166904662A>T	ENST00000271417.3	-	6	811	c.756T>A	c.(754-756)ggT>ggA	p.G252G	ILDR2_ENST00000469934.2_Silent_p.G252G|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.G233G|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	252						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCCGGGGACACCGGAGACAG	0.602000													15	39					0	0	0.003163	0	0
MATK	4145	broad.mit.edu	37	19	3784203	3784203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3784203C>A	ENST00000310132.6	-	5	679	c.281G>T	c.(280-282)aGt>aTt	p.S94I	MATK_ENST00000585778.1_Missense_Mutation_p.S94I|MATK_ENST00000395040.2_Missense_Mutation_p.S53I|MATK_ENST00000395045.2_Missense_Mutation_p.S95I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	94	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGTCCACTGGTGTGGTG	0.692000													23	57					4.26978e-12	1.07812e-11	0.003330	1	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108995	90108995	+	RNA	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:90108995C>T	ENST00000390271.2	+	0	286																											GGCAGTGGATCTGGGACAGAT	0.507000													20	61					0	0	0.001216	0	0
OLR1	4973	broad.mit.edu	37	12	10319426	10319426	+	Silent	SNP	C	C	T	rs146929021		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10319426C>T	ENST00000309539.3	-	3	369	c.309G>A	c.(307-309)aaG>aaA	p.K103K	OLR1_ENST00000432556.2_Silent_p.K103K|OLR1_ENST00000544577.1_Silent_p.K103K|OLR1_ENST00000545927.1_Silent_p.K103K|OLR1_ENST00000543993.1_5'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	103	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTATCATTTCCTTGAGTTCGT	0.448000													36	132					0	0	0.004878	0	0
IGF1R	3480	broad.mit.edu	37	15	99251053	99251053	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:99251053C>A	ENST00000268035.6	+	2	968	c.357C>A	c.(355-357)atC>atA	p.I119I	IGF1R_ENST00000558762.1_Silent_p.I119I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	119					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCTGGTCATCTTCGAGATGA	0.532000													32	28					2.81731e-10	6.91912e-10	0.002096	1	0
CDK2AP2	10263	broad.mit.edu	37	11	67275066	67275066	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:67275066C>A	ENST00000301488.3	-	2	725	c.177G>T	c.(175-177)gtG>gtT	p.V59V	CDK2AP2_ENST00000531506.1_Silent_p.V59V	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	59										lung(1)	1						CACTCACCTGCACGTAGCCCA	0.627000													9	39					5.4927e-09	1.28269e-08	0.004482	1	0
FUT9	10690	broad.mit.edu	37	6	96652001	96652001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:96652001G>C	ENST00000302103.5	+	3	1296	c.970G>C	c.(970-972)Gta>Cta	p.V324L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	324					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTCACTGTAAATCTTCC	0.363000													15	29					0	0	0.000958	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460234	32460234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:32460234C>T	ENST00000306901.3	+	10	1181	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R391W|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R181W	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	362					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCACAAGCAGCGGCGCTGCAG	0.687000													17	43					0	0	0.002299	0	0
GALNS	2588	broad.mit.edu	37	16	88884501	88884501	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88884501T>A	ENST00000268695.5	-	13	1484	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	GALNS_ENST00000542788.1_Missense_Mutation_p.S391C	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	466						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGATCCTGCTGAGGGCCTCC	0.667000													3	14					0	0	0.004672	0	0
LRRK2	120892	broad.mit.edu	37	12	40714839	40714839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40714839G>T	ENST00000298910.7	+	35	5077	c.5019G>T	c.(5017-5019)ttG>ttT	p.L1673F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1673					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTTAGTTTGTCTGACCACA	0.388000													27	118					1.75199e-13	4.49398e-13	0.007291	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045805	142045805	+	RNA	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:142045805C>A	ENST00000390392.3	+	0	444																											ATCTCTGTGCCAGCAGCCAAG	0.562000													40	275					4.17593e-13	1.06777e-12	0.001706	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77353779	77353779	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:77353779C>G	ENST00000282849.5	-	16	2917	c.2499G>C	c.(2497-2499)gcG>gcC	p.A833A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A833A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGCCCTGGCGCGTACAGAC	0.542000													17	74					0	0	0.004007	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:88669548G>A	ENST00000394480.1	-	13	1671	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000355254.2_Silent_p.F450F|NTRK3_ENST00000540489.2_Silent_p.F450F|NTRK3_ENST00000360948.2_Silent_p.F450F|NTRK3_ENST00000542733.2_Silent_p.F352F|NTRK3_ENST00000317501.3_Silent_p.F450F|NTRK3_ENST00000357724.2_Silent_p.F442F|NTRK3_ENST00000557856.1_Silent_p.F442F|NTRK3_ENST00000558676.1_Silent_p.F442F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450					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)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	27					0	0	0.001368	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939112	2939112	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:2939112G>A	ENST00000378404.2	+	1	1067	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	288						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CACCAAGTGTGATACCGACAT	0.632000													29	98					0	0	0.006320	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554620	85554620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:85554620C>T	ENST00000377386.3	-	2	697	c.235G>A	c.(235-237)Gac>Aac	p.D79N	TGOLN2_ENST00000444342.2_Missense_Mutation_p.D79N|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D79N|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.D79N|TGOLN2_ENST00000409015.1_Missense_Mutation_p.D79N			O43493	TGON2_HUMAN	trans-golgi network protein 2	79	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGGGGGTGTCTTCTGGGGTC	0.592000													127	378					0	0	0.003610	0	0
OR10G8	219869	broad.mit.edu	37	11	123901012	123901012	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901012G>T	ENST00000431524.1	+	1	716	c.683G>T	c.(682-684)cGc>cTc	p.R228L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGCGGATCCGCACCTCAGAG	0.527000													29	80					2.12542e-12	5.40043e-12	0.006320	1	0
USH2A	7399	broad.mit.edu	37	1	216591996	216591996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:216591996C>T	ENST00000366943.2	-	3	897	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	USH2A_ENST00000307340.3_Missense_Mutation_p.G171R|USH2A_ENST00000366942.3_Missense_Mutation_p.G171R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	171					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAATCTGCCCATCTACTGTC	0.388000										HNSCC(13;0.011)			7	57					0	0	0.001984	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457428	21457428	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:21457428G>T	ENST00000307378.6	-	7	1242	c.522C>A	c.(520-522)ccC>ccA	p.P174P	SLCO1A2_ENST00000537524.1_Silent_p.P42P|SLCO1A2_ENST00000458504.1_Silent_p.P42P|SLCO1A2_ENST00000390670.3_Silent_p.P172P|SLCO1A2_ENST00000452078.1_Silent_p.P174P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	174					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAGGCAGGATGGGAGTTTCAC	0.343000													20	36					2.39187e-15	6.35735e-15	0.001216	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766814	27766814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:27766814C>G	ENST00000451261.2	+	5	2201	c.1802C>G	c.(1801-1803)gCt>gGt	p.A601G		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGTGGTGAAGCTGAATTTCCA	0.537000													5	11					0	0	0.000602	0	0
NRXN1	9378	broad.mit.edu	37	2	50780123	50780123	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780123C>A	ENST00000404971.1	-	10	2820	c.1481G>T	c.(1480-1482)cGa>cTa	p.R494L	NRXN1_ENST00000401669.2_Missense_Mutation_p.R454L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R446L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R454L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R454L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R446L|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	454	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTGGCAAGTCGAGATAATTC	0.403000													32	137					6.84511e-11	1.7018e-10	0.003271	1	0
NPLOC4	55666	broad.mit.edu	37	17	79564324	79564324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79564324C>A	ENST00000374747.5	-	10	1069	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	NPLOC4_ENST00000331134.6_Missense_Mutation_p.D314Y|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D153Y			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	314					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGACGAGGTCTGTAAATATC	0.478000													16	74					3.52763e-06	7.74545e-06	0.004990	1	0
TTC7B	145567	broad.mit.edu	37	14	91084371	91084371	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:91084371C>T	ENST00000357056.2	-	16	1891	c.1770G>A	c.(1768-1770)gtG>gtA	p.V590V	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Silent_p.V590V			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	590							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACTGCAACTTCACTTTGGAAA	0.542000													19	38					0	0	0.002299	0	0
MDH1B	130752	broad.mit.edu	37	2	207620218	207620218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207620218G>A	ENST00000374412.3	-	5	700	c.425C>T	c.(424-426)cCt>cTt	p.P142L	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.P44L|MDH1B_ENST00000454776.2_Missense_Mutation_p.P142L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	142					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAGCAGGCAGGAGCAGAGGC	0.398000													21	51					0	0	0.002299	0	0
SHPRH	257218	broad.mit.edu	37	6	146262922	146262922	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146262922C>A	ENST00000367503.3	-	10	2725	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SHPRH_ENST00000438092.2_Missense_Mutation_p.R776L|SHPRH_ENST00000275233.7_Missense_Mutation_p.R776L|SHPRH_ENST00000367505.2_Missense_Mutation_p.R776L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	776	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R776H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATTCTGAACGCAGTACATC	0.418000													6	50					8.12818e-05	0.000172831	0.001984	1	0
LAMA2	3908	broad.mit.edu	37	6	129802530	129802530	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:129802530G>A	ENST00000421865.2	+	55	7744	c.7695G>A	c.(7693-7695)ttG>ttA	p.L2565L	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2565	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCATTCTTTTGGGAAGTGGAG	0.478000													13	66					0	0	0.002450	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354245	17354245	+	RNA	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:17354245C>G	ENST00000511821.1	+	0	104				FTH1P10_ENST00000401830.3_RNA																							GCATTCAGCCCGCTCTCCCAG	0.473000													111	110					0	0	0.003610	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928002	43928002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43928002C>A	ENST00000396879.1	-	10	1156	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	CATSPER2_ENST00000381761.1_Missense_Mutation_p.R354S|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.R348S|CATSPER2_ENST00000355438.2_Missense_Mutation_p.R348S|CATSPER2_ENST00000321596.5_Missense_Mutation_p.R348S			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	348					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGCTCTTTCCTGATATTCT	0.512000													13	20					0.00244969	0.00497325	0.002450	1	0
C6orf222	389384	broad.mit.edu	37	6	36294357	36294357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:36294357C>T	ENST00000437635.2	-	5	1143	c.966G>A	c.(964-966)tgG>tgA	p.W322*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	322										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCTTGGGTGGCCAGGCCTCTG	0.572000													16	100					0	0	0.004007	0	0
GALNT11	63917	broad.mit.edu	37	7	151797963	151797963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151797963C>T	ENST00000434507.1	+	5	813	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	GALNT11_ENST00000320311.2_Missense_Mutation_p.R126C|GALNT11_ENST00000415421.1_Missense_Mutation_p.R126C|GALNT11_ENST00000430044.2_Missense_Mutation_p.R126C|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Missense_Mutation_p.R45C|GALNT11_ENST00000482812.1_Intron			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	126						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TATCAGTGACCGCTTGGGCTA	0.408000													20	79					0	0	0.001216	0	0
UPK3A	7380	broad.mit.edu	37	22	45689060	45689060	+	Splice_Site	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:45689060A>T	ENST00000216211.4	+	5	603		c.e5-1		UPK3A_ENST00000396082.2_Splice_Site	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A						epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCACCACAGTCACCCCAT	0.657000													11	34					0	0	0.001368	0	0
ZNF44	51710	broad.mit.edu	37	19	12384496	12384496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12384496C>A	ENST00000356109.5	-	5	836	c.718G>T	c.(718-720)Ggt>Tgt	p.G240C	ZNF44_ENST00000355684.5_Missense_Mutation_p.G192C	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCATCTCCACCTTTTACTACC	0.403000													28	60					4.87955e-14	1.25964e-13	0.005443	1	0
PCDHA1	56147	broad.mit.edu	37	5	140168241	140168241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140168241C>G	ENST00000504120.2	+	1	2366	c.2366C>G	c.(2365-2367)cCa>cGa	p.P789R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P789R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAACAACCAGAAGCAAAT	0.413000													5	13					0	0	0.000602	0	0
CEP170	9859	broad.mit.edu	37	1	243362455	243362455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:243362455G>C	ENST00000366542.1	-	7	589	c.538C>G	c.(538-540)Ccg>Gcg	p.P180A	CEP170_ENST00000366543.1_Missense_Mutation_p.P180A|CEP170_ENST00000366544.1_Missense_Mutation_p.P180A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	180						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACCATGACGGCTGCCCATAT	0.418000													12	16					0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38854730	38854730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:38854730C>A	ENST00000359357.3	+	55	8026	c.7772C>A	c.(7771-7773)aCt>aAt	p.T2591N	DNAH8_ENST00000449981.2_Missense_Mutation_p.T2808N|DNAH8_ENST00000441566.1_Missense_Mutation_p.T2555N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACAATTTACTGTGTTTAAT	0.338000													12	25					4.36969e-10	1.06347e-09	0.001855	1	0
HAUS5	23354	broad.mit.edu	37	19	36111009	36111009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36111009G>T	ENST00000203166.5	+	16	1527	c.1502G>T	c.(1501-1503)gGg>gTg	p.G501V	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	501					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACAAGCTGGGGCTGCCTCCA	0.677000													42	83					1.62957e-23	4.70248e-23	0.001951	1	0
CNOT1	23019	broad.mit.edu	37	16	58568212	58568212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58568212G>A	ENST00000317147.5	-	40	6066	c.5734C>T	c.(5734-5736)Cgt>Tgt	p.R1912C	CNOT1_ENST00000245138.4_Missense_Mutation_p.R763C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1907C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1912					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCTGAGCACGGTAACTGATT	0.478000													9	37					0	0	0.006214	0	0
CMIP	80790	broad.mit.edu	37	16	81712034	81712034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:81712034G>C	ENST00000537098.3	+	10	1261	c.1189G>C	c.(1189-1191)Gtg>Ctg	p.V397L	CMIP_ENST00000539778.2_Missense_Mutation_p.V303L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V244L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	363						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GTCGGTGGTCGTGGCCTCCAG	0.662000													6	7					0	0	0.001168	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240963	134240963	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:134240963A>T	ENST00000535456.2	+	13	1465	c.1277A>T	c.(1276-1278)cAg>cTg	p.Q426L	GLB1L2_ENST00000389881.3_Missense_Mutation_p.Q426L|GLB1L2_ENST00000339772.7_Missense_Mutation_p.Q426L|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	426					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGAAATGGACAGTCCTTCGGG	0.537000													26	105					0	0	0.003954	0	0
MTMR10	54893	broad.mit.edu	37	15	31253125	31253125	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:31253125C>A	ENST00000435680.1	-	7	814	c.717G>T	c.(715-717)tgG>tgT	p.W239C	MTMR10_ENST00000563714.1_Missense_Mutation_p.W157C|MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000425768.1_Missense_Mutation_p.G209V	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	239	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AACAAACTCTCCACCCGGAAG	0.433000													7	15					1.12685e-05	2.44757e-05	0.004482	1	0
HSPH1	10808	broad.mit.edu	37	13	31711555	31711555	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:31711555T>C	ENST00000320027.5	-	18	2821	c.2477A>G	c.(2476-2478)gAa>gGa	p.E826G	HSPH1_ENST00000445273.2_Missense_Mutation_p.E828G|HSPH1_ENST00000380406.5_Missense_Mutation_p.E785G|HSPH1_ENST00000380405.4_Missense_Mutation_p.E782G|HSPH1_ENST00000429785.2_Missense_Mutation_p.E645G	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	826					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTCTAAATCTTCTTCCTTTTT	0.363000													19	47					0	0	0.006122	0	0
OR2T1	26696	broad.mit.edu	37	1	248569884	248569884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:248569884G>T	ENST00000366474.1	+	1	589	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GATTATAGCAGGTTCCTGGTT	0.542000													49	49					8.04919e-23	2.29814e-22	0.003610	1	0
DOCK11	139818	broad.mit.edu	37	X	117817178	117817178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:117817178C>T	ENST00000276204.6	+	52	6174	c.6100C>T	c.(6100-6102)Cag>Tag	p.Q2034*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.Q2034*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2034					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATCCATGAGCAGGCAAGTAT	0.358000													29	43					0	0	0.006320	0	0
KIF2B	84643	broad.mit.edu	37	17	51901021	51901021	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:51901021G>C	ENST00000268919.4	+	1	783	c.627G>C	c.(625-627)ccG>ccC	p.P209P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCCCCCGCAAGAACATC	0.537000													10	58					0	0	0.000673	0	0
CCDC53	51019	broad.mit.edu	37	12	102433723	102433723	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:102433723T>C	ENST00000240079.6	-	5	519	c.358A>G	c.(358-360)Agt>Ggt	p.S120G	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.S119G	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	120						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GATACTTCACTTTCCTGTAGT	0.373000													37	130					0	0	0.001706	0	0
MRPL54	116541	broad.mit.edu	37	19	3762721	3762721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3762721G>T	ENST00000330133.4	+	1	60	c.23G>T	c.(22-24)gGg>gTg	p.G8V		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	8						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTTTTCGGGGCTACCCGG	0.627000													22	92					4.26978e-12	1.07812e-11	0.003330	1	0
WDR11	55717	broad.mit.edu	37	10	122624702	122624702	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:122624702G>T	ENST00000263461.6	+	6	1103	c.857G>T	c.(856-858)cGc>cTc	p.R286L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	286						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCAATAGAACGCACAGGAGTT	0.358000													20	47					2.4624e-09	5.86907e-09	0.001216	1	0
CUL4B	8450	broad.mit.edu	37	X	119677600	119677600	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:119677600T>G	ENST00000371322.5	-	8	1299	c.1238A>C	c.(1237-1239)tAc>tCc	p.Y413S	CUL4B_ENST00000404115.3_Missense_Mutation_p.Y431S|CUL4B_ENST00000336592.6_Missense_Mutation_p.Y418S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCTAAGTAAGTAATAAG	0.348000													24	42					0	0	0.001512	0	0
ABCA10	10349	broad.mit.edu	37	17	67218001	67218001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:67218001A>G	ENST00000269081.4	-	6	1144	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	ABCA10_ENST00000423818.2_Intron|ABCA10_ENST00000432313.2_Missense_Mutation_p.Y79H|ABCA10_ENST00000416101.2_Missense_Mutation_p.Y79H	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	79					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTGCCAAGTAACAAAAAATT	0.338000													7	14					0	0	0.004482	0	0
MAEL	84944	broad.mit.edu	37	1	166961962	166961962	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166961962G>T	ENST00000367872.4	+	4	609	c.365G>T	c.(364-366)aGc>aTc	p.S122I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S91I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	122					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AACATTTTTAGCCATGGCGAG	0.363000													34	35					3.62531e-18	9.92965e-18	0.004289	1	0
CARM1	10498	broad.mit.edu	37	19	11032327	11032327	+	Missense_Mutation	SNP	C	C	T	rs139191688		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:11032327C>T	ENST00000327064.4	+	16	1911	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	CARM1_ENST00000344150.4_Missense_Mutation_p.T551M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGTGGCAGCACGAGTGCCCAC	0.677000													19	62					0	0	0.001216	0	0
SCAND3	114821	broad.mit.edu	37	6	28543800	28543800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:28543800T>A	ENST00000452236.2	-	3	1299	c.682A>T	c.(682-684)Aga>Tga	p.R228*	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	228					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCTAAGCTTCTGAAGAACTTT	0.348000													8	50					0	0	0.003080	0	0
ABCB4	5244	broad.mit.edu	37	7	87053332	87053332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:87053332G>T	ENST00000265723.4	-	17	2212	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	ABCB4_ENST00000358400.3_Missense_Mutation_p.L701M|ABCB4_ENST00000545634.1_Missense_Mutation_p.L701M|ABCB4_ENST00000453593.1_Missense_Mutation_p.L701M|ABCB4_ENST00000359206.3_Missense_Mutation_p.L701M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	701					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCAGTTTCAGGACCTTCAGA	0.453000													20	73					5.03518e-11	1.25569e-10	0.000958	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145039590	145039590	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:145039590C>G	ENST00000313382.9	-	1	412	c.20_splice	c.e1+1	p.R7_splice	PDE4DIP_ENST00000478649.2_Splice_Site_p.R7_splice|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000493130.2_Splice_Site_p.R7_splice	NM_001198832.1	NP_001185761.1	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCCACCTACCTCGTCCAGGT	0.627000			T	PDGFRB	MPD								3	53					0	0	0.004672	0	0
TKTL2	84076	broad.mit.edu	37	4	164393884	164393884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:164393884C>A	ENST00000280605.3	-	1	1163	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	335						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ctttcatttgcacggcccagt	0.418000													32	105					1.62565e-12	4.14361e-12	0.002445	1	0
KIAA1429	25962	broad.mit.edu	37	8	95500951	95500951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:95500951G>A	ENST00000297591.5	-	24	5497	c.5422C>T	c.(5422-5424)Cgc>Tgc	p.R1808C	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1808					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAAGGAGCGTACATGACGA	0.438000													28	77					0	0	0.007291	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810615	169810615	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:169810615C>A	ENST00000521859.1	-	3	773	c.374G>T	c.(373-375)tGt>tTt	p.C125F	KCNMB1_ENST00000274629.4_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron			Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	0					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		gGGACAGGGACAGTTAGGAAC	0.557000													3	11					6.4e-05	0.000137167	0.004672	1	0
EPHA6	285220	broad.mit.edu	37	3	97439201	97439201	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:97439201T>A	ENST00000389672.5	+	15	2919	c.2881T>A	c.(2881-2883)Tgg>Agg	p.W961R		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	866	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATTGTCATGTGGGAGGTCAT	0.463000													16	60					0	0	0.004007	0	0
CPO	130749	broad.mit.edu	37	2	207834010	207834010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207834010G>T	ENST00000272852.3	+	9	1021	c.975G>T	c.(973-975)caG>caT	p.Q325H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	325					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAGAAGCTCAGATCCAGCCCA	0.527000													12	48					1.08611e-07	2.48605e-07	0.000978	1	0
HID1	283987	broad.mit.edu	37	17	72959062	72959062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:72959062C>T	ENST00000425042.2	-	4	579	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		ACACTCACCACAGTGCTCCTC	0.667000													11	53					0	0	0.001368	0	0
MAVS	57506	broad.mit.edu	37	20	3841990	3841990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:3841990C>T	ENST00000428216.2	+	4	432	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	102					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTCGGACCGTCCCCCAGA	0.597000													22	64					0	0	0.002780	0	0
NUTM1	256646	broad.mit.edu	37	15	34646693	34646693	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:34646693G>C	ENST00000537011.1	+	6	1504	c.1122G>C	c.(1120-1122)cgG>cgC	p.R374R	NUTM1_ENST00000333756.4_Silent_p.R346R|NUTM1_ENST00000438749.3_Silent_p.R364R					NUT midline carcinoma, family member 1																		CCCCCCGCCGGCGTCAGCGTA	0.557000													23	62					0	0	0.005443	0	0
SLC6A12	6539	broad.mit.edu	37	12	309926	309926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:309926G>T	ENST00000428720.1	-	7	1345	c.602C>A	c.(601-603)tCg>tAg	p.S201*	SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.S201*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	201					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGGATGCCCGAGGTGATGCC	0.567000													29	82					5.45727e-16	1.46494e-15	0.001512	1	0
NLGN1	22871	broad.mit.edu	37	3	173997383	173997383	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:173997383A>G	ENST00000457714.1	+	6	2021	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	NLGN1_ENST00000545397.1_Missense_Mutation_p.N531S|NLGN1_ENST00000361589.4_Missense_Mutation_p.N531S|NLGN1_ENST00000401917.3_Missense_Mutation_p.N571S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	548					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTCTCCAAAAATGATGTGATG	0.408000													11	62					0	0	0.000978	0	0
LSG1	55341	broad.mit.edu	37	3	194365325	194365325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:194365325C>T	ENST00000265245.5	-	13	2088	c.1774G>A	c.(1774-1776)Gtt>Att	p.V592I	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	592					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTTTGTCAACGATATTTTCA	0.328000													9	42					0	0	0.006214	0	0
LZTS1	11178	broad.mit.edu	37	8	20107319	20107319	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:20107319G>A	ENST00000381569.1	-	4	2062	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	LZTS1_ENST00000265801.6_Missense_Mutation_p.R569C|LZTS1_ENST00000522290.1_Missense_Mutation_p.R510C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	569					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGTCCCCACGTGCCAGCTGC	0.617000													18	104					0	0	0.001523	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676237	9676237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:9676237C>A	ENST00000330255.4	-	5	589	c.577G>T	c.(577-579)Gct>Tct	p.A193S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.A192S	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	193						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTGGAGGCAGCGTCTGCGAGA	0.617000													7	23					2.0095e-06	4.44842e-06	0.001984	1	0
IQUB	154865	broad.mit.edu	37	7	123143292	123143292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:123143292C>G	ENST00000466202.1	-	4	1234	c.658G>C	c.(658-660)Gat>Cat	p.D220H	IQUB_ENST00000434450.1_Missense_Mutation_p.D220H|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000324698.6_Missense_Mutation_p.D220H			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	220										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGAGACATCAGTTAATCCA	0.358000													25	84					0	0	0.002780	0	0
CHFR	55743	broad.mit.edu	37	12	133435715	133435715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133435715C>T	ENST00000266880.7	-	8	949	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.D255N|CHFR_ENST00000450056.2_Missense_Mutation_p.D284N|CHFR_ENST00000432561.2_Missense_Mutation_p.D296N|CHFR_ENST00000443047.2_Missense_Mutation_p.D204N			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	296					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCATCTTGTCTGGCTTCCCA	0.597000													13	42					0	0	0.001368	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136707	40136707	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:40136707G>T	ENST00000278198.2	-	2	3099	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T379K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCAGGGATGTGGAGGCCCG	0.498000													21	80					2.70639e-06	5.95849e-06	0.002299	1	0
MIR382	494331	broad.mit.edu	37	14	101520698	101520698	+	RNA	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:101520698C>A	ENST00000385009.2	-	0	25					NR_029874.1																						GAATCATTCACGGACAACACT	0.438000													10	12					9.70103e-10	2.34684e-09	0.000673	1	0
GTF3C3	9330	broad.mit.edu	37	2	197650199	197650199	+	Missense_Mutation	SNP	T	T	C	rs138093114		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:197650199T>C	ENST00000263956.3	-	7	1096	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	GTF3C3_ENST00000409364.3_Missense_Mutation_p.Y336C|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	336						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTTAGAAATATATAGTTCAGC	0.358000													8	33					0	0	0.006214	0	0
NDNF	79625	broad.mit.edu	37	4	121957963	121957963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:121957963T>A	ENST00000379692.4	-	4	1689	c.1163A>T	c.(1162-1164)cAa>cTa	p.Q388L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	388										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCTTCTCACTTGGATTTGGAC	0.428000													29	71					0	0	0.007291	0	0
FSTL5	56884	broad.mit.edu	37	4	162380450	162380450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:162380450G>C	ENST00000306100.5	-	14	2066	c.1630C>G	c.(1630-1632)Cca>Gca	p.P544A	FSTL5_ENST00000536695.1_Missense_Mutation_p.P543A|FSTL5_ENST00000379164.4_Missense_Mutation_p.P543A|FSTL5_ENST00000427802.2_Missense_Mutation_p.P534A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	544						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTTAACTGGGACAGGGTCT	0.378000													10	56					0	0	0.000978	0	0
C2orf54	79919	broad.mit.edu	37	2	241831032	241831032	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:241831032G>T	ENST00000307486.8	-	2	314	c.216C>A	c.(214-216)ccC>ccA	p.P72P	C2orf54_ENST00000402775.2_Silent_p.P53P|C2orf54_ENST00000388934.4_Silent_p.P221P			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	221										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CAGGGAATCCGGGCATCTGCT	0.657000													32	93					9.04072e-19	2.50168e-18	0.003271	1	0
FAT1	2195	broad.mit.edu	37	4	187629394	187629394	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187629394T>A	ENST00000441802.2	-	2	1797	c.1588A>T	c.(1588-1590)Atg>Ttg	p.M530L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	530	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCCGAGGCATCAGTTCGTAG	0.473000										HNSCC(5;0.00058)			24	65					0	0	0.004656	0	0
SFRP4	6424	broad.mit.edu	37	7	37953821	37953821	+	Missense_Mutation	SNP	T	T	C	rs112054297		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:37953821T>C	ENST00000436072.2	-	3	963	c.586A>G	c.(586-588)Agc>Ggc	p.S196G	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	196	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTACCATAGCTGTAGTTTTTG	0.398000													16	32					0	0	0.006122	0	0
PHF3	23469	broad.mit.edu	37	6	64422632	64422632	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:64422632A>T	ENST00000262043.3	+	16	5488	c.5148A>T	c.(5146-5148)ttA>ttT	p.L1716F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1716F			Q92576	PHF3_HUMAN	PHD finger protein 3	1716					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTGACAATTTAAAAGTTGCAC	0.373000													9	27					0	0	0.004482	0	0
LRRK2	120892	broad.mit.edu	37	12	40728910	40728910	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40728910A>T	ENST00000298910.7	+	40	5957	c.5899A>T	c.(5899-5901)Act>Tct	p.T1967S		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1967	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCCAGCCTCACTAGAACCCT	0.507000													24	58					0	0	0.003954	0	0
OPTC	26254	broad.mit.edu	37	1	203472812	203472812	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:203472812C>T	ENST00000367222.2	+	7	1079	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	321						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCGCCTACTTCTGCCTGCCTC	0.632000													31	62					0	0	0.002096	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392880	89392880	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:89392880T>A	ENST00000532352.1	+	0	703							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CACACCAGGTTACCCAGCAAA	0.433000													10	42					0	0	0.000978	0	0
ERMN	57471	broad.mit.edu	37	2	158178042	158178042	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158178042T>C	ENST00000410096.1	-	3	887	c.596A>G	c.(595-597)gAt>gGt	p.D199G	ERMN_ENST00000397283.2_Missense_Mutation_p.D212G|ERMN_ENST00000535935.1_Missense_Mutation_p.D93G|ERMN_ENST00000420719.2_Missense_Mutation_p.D179G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	199						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCGAACTtcatcttcatcatt	0.383000													6	110					0	0	0.001168	0	0
WDR77	79084	broad.mit.edu	37	1	111991351	111991351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:111991351G>A	ENST00000235090.5	-	2	397	c.191C>T	c.(190-192)cCc>cTc	p.P64L	WDR77_ENST00000411751.2_Missense_Mutation_p.P64L	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	64					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGCACAGGGGTCCTTAAA	0.652000													3	11					0	0	0.004672	0	0
SYT16	83851	broad.mit.edu	37	14	62547693	62547693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:62547693G>C	ENST00000430451.2	+	4	1332	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_3'UTR	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	379	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGGCCTCCCAGATAAGGACCG	0.537000													5	18					0	0	0.001168	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21751402	21751402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:21751402G>C	ENST00000319481.3	-	23	2468	c.2262C>G	c.(2260-2262)caC>caG	p.H754Q	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.H241Q|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.H372Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	754					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCAACTTTGTGTAATTCCT	0.294000													31	71					0	0	0.002836	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177112	89177112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:89177112G>T	ENST00000561129.2	+	1	158	c.28G>T	c.(28-30)Gag>Tag	p.E10*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.E10*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGCCCGGCTGAGACCCAAAG	0.522000													26	47					4.87955e-14	1.25964e-13	0.005443	1	0
TNR	7143	broad.mit.edu	37	1	175325503	175325503	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:175325503T>C	ENST00000367674.1	-	16	3778	c.3070A>G	c.(3070-3072)Acc>Gcc	p.T1024A	TNR_ENST00000263525.2_Missense_Mutation_p.T1024A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1024	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCCATTGGTGGCATACATG	0.507000													11	75					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179595724	179595724	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179595724T>A	ENST00000589042.1	-	60	17892	c.17668A>T	c.(17668-17670)Agt>Tgt	p.S5890C	TTN_ENST00000342992.6_Missense_Mutation_p.S4646C|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5573C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5573	Ig-like 40.						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)			TATTCTCCACTATCTTTCTTT	0.378000													58	168					0	0	0.003610	0	0
MAPK4	5596	broad.mit.edu	37	18	48190452	48190452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:48190452G>A	ENST00000400384.2	+	2	1160	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A42T|MAPK4_ENST00000592595.1_Missense_Mutation_p.A42T	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	42	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGACAGCCGGGCCTGCCGGAA	0.612000													14	48					0	0	0.004990	0	0
TMEM61	199964	broad.mit.edu	37	1	55451924	55451924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:55451924C>T	ENST00000371268.3	+	2	444	c.170C>T	c.(169-171)cCg>cTg	p.P57L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	57						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ACGGAGTATCCGGTGCCTGAG	0.682000													27	79					0	0	0.005443	0	0
MAP4K3	8491	broad.mit.edu	37	2	39505576	39505576	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:39505576T>C	ENST00000263881.3	-	24	2090	c.1766A>G	c.(1765-1767)aAt>aGt	p.N589S	MAP4K3_ENST00000536018.1_Missense_Mutation_p.N142S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N505S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N568S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	589	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATGAAGTTCATTAAGATTGAG	0.264000													3	22					0	0	0.000248	0	0
ATR	545	broad.mit.edu	37	3	142184024	142184024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:142184024C>T	ENST00000350721.4	-	41	7077	c.6956G>A	c.(6955-6957)gGa>gAa	p.G2319E	ATR_ENST00000383101.3_Missense_Mutation_p.G2255E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2319					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGAACTTTCCATCTGAGCC	0.333000								Other conserved DNA damage response genes					8	24					0	0	0.006214	0	0
FRMD7	90167	broad.mit.edu	37	X	131212467	131212467	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:131212467A>G	ENST00000298542.4	-	12	1753	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	FRMD7_ENST00000370879.1_Silent_p.T406T|FRMD7_ENST00000464296.1_Silent_p.T511T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	526					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCATTGCAGTGGGCTCTA	0.493000													68	129					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995218	140995218	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:140995218C>A	ENST00000285879.4	+	4	2314	c.2028C>A	c.(2026-2028)ctC>ctA	p.L676L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	676							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)					AATCTCCTCTCCAGAGTCCTG	0.567000										HNSCC(15;0.026)			51	98					4.01344e-20	1.1221e-19	0.003610	1	0
TMEM200C	645369	broad.mit.edu	37	18	5890361	5890361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:5890361G>T	ENST00000581347.1	-	3	2347	c.1702C>A	c.(1702-1704)Ctg>Atg	p.L568M	TMEM200C_ENST00000383490.2_Missense_Mutation_p.L568M|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	568						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCGCACCCAGAACGGGGGCG	0.652000													14	47					7.93312e-07	1.78054e-06	0.002450	1	0
SLC16A7	9194	broad.mit.edu	37	12	60169129	60169129	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:60169129T>C	ENST00000261187.4	+	4	1217	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	SLC16A7_ENST00000552024.1_Silent_p.F351F|SLC16A7_ENST00000543448.1_Silent_p.F252F|SLC16A7_ENST00000552432.1_Silent_p.F351F|SLC16A7_ENST00000547379.1_Silent_p.F351F	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	351						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCCTTGGATTTGGGAGTGTTA	0.478000													4	169					0	0	0.000602	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650065	51650065	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51650065C>A	ENST00000317643.6	+	5	1151	c.1082C>A	c.(1081-1083)gCc>gAc	p.A361D	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A268D|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	361					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGCTGGAGCCACAGCCCTG	0.577000													24	85					4.4004e-07	9.95945e-07	0.003330	1	0
USP54	159195	broad.mit.edu	37	10	75276690	75276690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:75276690G>A	ENST00000339859.4	-	19	3594	c.3494C>T	c.(3493-3495)cCt>cTt	p.P1165L	USP54_ENST00000394811.2_Missense_Mutation_p.P253L|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.P347L|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.P1165L|USP54_ENST00000428547.1_Missense_Mutation_p.P1015L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1165					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAATCAGAAGGGGAAGAGTT	0.507000													49	115					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130287207	130287207	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:130287207C>A	ENST00000358511.6	+	5	2191	c.2160C>A	c.(2158-2160)ccC>ccA	p.P720P	COL6A6_ENST00000453409.2_Silent_p.P720P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	720	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCGCCCGGCCCAACATCAGAA	0.498000													32	95					1.61788e-16	4.37206e-16	0.002445	1	0
OR56A3	390083	broad.mit.edu	37	11	5968729	5968729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5968729G>T	ENST00000329564.6	+	1	160	c.153G>T	c.(151-153)atG>atT	p.M51I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	51			M -> T (in dbSNP:rs1840178).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTCCTGATGACCATCTGGC	0.607000													26	105					1.5548e-18	4.28764e-18	0.005443	1	0
ADH7	131	broad.mit.edu	37	4	100349102	100349102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:100349102G>T	ENST00000437033.2	-	5	895	c.392C>A	c.(391-393)aCa>aAa	p.T131K	ADH7_ENST00000209665.4_Missense_Mutation_p.T143K|ADH7_ENST00000482593.1_Missense_Mutation_p.T74K|ADH7_ENST00000476959.1_Missense_Mutation_p.T151K			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	143					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCCCTTGCATGTAAATCTGGT	0.403000													26	90					7.26314e-15	1.9054e-14	0.007291	1	0
TRAV12-3	28672	broad.mit.edu	37	14	22434099	22434099	+	RNA	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:22434099C>G	ENST00000390442.3	+	0	208																											AGCAACAGTGCTTTTCAATAC	0.473000													37	108					0	0	0.003271	0	0
ALMS1	7840	broad.mit.edu	37	2	73777441	73777441	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:73777441A>C	ENST00000264448.6	+	13	10063	c.9952A>C	c.(9952-9954)Aca>Cca	p.T3318P	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3276P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3318					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTGCTAGGCACAAGAGATGA	0.438000													16	60					0	0	0.004007	0	0
DCDC1	341019	broad.mit.edu	37	11	31086673	31086673	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:31086673G>C	ENST00000597505.1	-	17	2325	c.2326C>G	c.(2326-2328)Cta>Gta	p.L776V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCTCCTCTAGGTAGGTCAGA	0.423000													7	30					0	0	0.001984	0	0
SHANK1	50944	broad.mit.edu	37	19	51172432	51172432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51172432G>T	ENST00000293441.1	-	22	2803	c.2785C>A	c.(2785-2787)Ccg>Acg	p.P929T	SHANK1_ENST00000391814.1_Missense_Mutation_p.P937T|SHANK1_ENST00000391813.1_Missense_Mutation_p.P316T|SHANK1_ENST00000359082.3_Missense_Mutation_p.P920T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGGCTCCGGTGGGGACGTG	0.667000											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					3.59834e-05	7.75321e-05	0.001168	1	0
OR10A5	144124	broad.mit.edu	37	11	6867169	6867169	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6867169C>A	ENST00000299454.4	+	1	287	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	OR10A5_ENST00000379831.2_Missense_Mutation_p.L90M			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGGGGACCCTGCTTGCCCA	0.498000													25	128					4.87955e-14	1.25964e-13	0.005443	1	0
KIAA1614	57710	broad.mit.edu	37	1	180885313	180885313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:180885313C>G	ENST00000367588.4	+	2	129	c.74C>G	c.(73-75)aCa>aGa	p.T25R		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGAGTGGAACAGCCAGCCCC	0.617000													3	41					0	0	0.000248	0	0
NRXN1	9378	broad.mit.edu	37	2	50780107	50780107	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780107T>A	ENST00000404971.1	-	10	2836	c.1497A>T	c.(1495-1497)ggA>ggT	p.G499G	NRXN1_ENST00000401669.2_Silent_p.G459G|NRXN1_ENST00000405472.3_Silent_p.G451G|NRXN1_ENST00000406316.2_Silent_p.G459G|NRXN1_ENST00000406859.3_Silent_p.G459G|NRXN1_ENST00000402717.3_Silent_p.G451G|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	459	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTAGGATCTCCTTGCTTGG	0.408000													36	130					0	0	0.005524	0	0
SNAP91	9892	broad.mit.edu	37	6	84375158	84375158	+	Splice_Site	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:84375158C>A	ENST00000428679.2	-	3	866	c.273_splice	c.e3+1	p.E91_splice	SNAP91_ENST00000521485.1_Splice_Site_p.E91_splice|SNAP91_ENST00000195649.6_Splice_Site_p.E91_splice|SNAP91_ENST00000521743.1_Splice_Site_p.E91_splice|SNAP91_ENST00000439399.2_Splice_Site_p.E91_splice|SNAP91_ENST00000520302.1_Splice_Site_p.E91_splice|SNAP91_ENST00000437520.1_Splice_Site_p.E91_splice|SNAP91_ENST00000520213.1_Splice_Site_p.E91_splice|SNAP91_ENST00000369694.2_Splice_Site_p.E91_splice			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	91	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTAGTTTACCTCATTTCCAT	0.408000													53	136					2.84144e-21	8.02756e-21	0.003610	1	0
TUFT1	7286	broad.mit.edu	37	1	151553494	151553494	+	Missense_Mutation	SNP	G	G	A	rs150712835		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:151553494G>A	ENST00000368849.3	+	12	1147	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	TUFT1_ENST00000353024.3_Missense_Mutation_p.R303Q|TUFT1_ENST00000538902.1_Missense_Mutation_p.R381Q|TUFT1_ENST00000368848.2_Missense_Mutation_p.R337Q|TUFT1_ENST00000392712.3_Missense_Mutation_p.R307Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	362					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGCCCGGGCCAAGACA	0.522000													16	48					0	0	0.004990	0	0
PEG3	5178	broad.mit.edu	37	19	57328850	57328850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:57328850C>G	ENST00000326441.9	-	10	1323	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K196N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K320N|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K194N|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	320					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGACACATCCTTGATGAATT	0.463000													37	92					0	0	0.006999	0	0
ANKS1B	56899	broad.mit.edu	37	12	99793503	99793503	+	Silent	SNP	T	T	A	rs34594552		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:99793503T>A	ENST00000547776.2	-	12	1661	c.1662A>T	c.(1660-1662)acA>acT	p.T554T	ANKS1B_ENST00000329257.7_Silent_p.T554T|ANKS1B_ENST00000547010.1_Silent_p.T134T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	554						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTGCACCCTGTAGATGTGT	0.428000													24	69					0	0	0.002299	0	0
LCMT2	9836	broad.mit.edu	37	15	43621835	43621835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43621835G>A	ENST00000305641.5	-	1	968	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_Missense_Mutation_p.P34L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	285					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCCACCCGCCGGCGTTCTTCT	0.557000													14	34					0	0	0.001855	0	0
C3orf20	84077	broad.mit.edu	37	3	14769945	14769945	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:14769945G>T	ENST00000253697.3	+	12	2142		c.e12-1		C3orf20_ENST00000412910.1_Splice_Site|C3orf20_ENST00000435614.1_Splice_Site	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20							cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTGTTAACAGGTCTGTTTAC	0.507000													19	35					1.33834e-09	3.22799e-09	0.000958	1	0
C1orf63	57035	broad.mit.edu	37	1	25573429	25573429	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:25573429C>A	ENST00000243189.7	-	2	302	c.26G>T	c.(25-27)tGg>tTg	p.W9L	C1orf63_ENST00000431849.2_Missense_Mutation_p.W9L|C1orf63_ENST00000417642.2_Missense_Mutation_p.W2L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	9										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGCCCGGCCACATGTCGTT	0.607000													22	89					8.24728e-16	2.20656e-15	0.004656	1	0
GRIA2	2891	broad.mit.edu	37	4	158281238	158281238	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:158281238G>T	ENST00000296526.7	+	13	2559	c.2234G>T	c.(2233-2235)gGt>gTt	p.G745V	GRIA2_ENST00000393815.2_Missense_Mutation_p.G698V|GRIA2_ENST00000264426.9_Missense_Mutation_p.G745V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G698V|GRIA2_ENST00000507898.1_Missense_Mutation_p.G698V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	745					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGAAAGTTGGTGGAAACCTG	0.438000													14	56					2.31682e-05	5.00533e-05	0.003163	1	0
TBC1D17	79735	broad.mit.edu	37	19	50390975	50390975	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:50390975G>T	ENST00000221543.5	+	15	1842	c.1542_splice	c.e15-1	p.V515_splice	TBC1D17_ENST00000535102.2_Splice_Site_p.V482_splice	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	515	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCACCCTCAGGTGCTGTGGAC	0.682000													8	23					0.000157383	0.000331161	0.003080	1	0
APBB1IP	54518	broad.mit.edu	37	10	26802519	26802519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:26802519C>G	ENST00000376236.4	+	8	1198	c.743C>G	c.(742-744)aCa>aGa	p.T248R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	248	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCAGACTGGACAAGAGACACA	0.343000													13	62					0	0	0.001368	0	0
ITM2A	9452	broad.mit.edu	37	X	78616913	78616913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:78616913G>A	ENST00000434584.2	-	4	820	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.R206C	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	206	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTAACATCACGAATTTCCTCC	0.398000													22	41					0	0	0.002299	0	0
OR56A1	120796	broad.mit.edu	37	11	6048387	6048387	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6048387T>A	ENST00000316650.5	-	1	584	c.548A>T	c.(547-549)aAc>aTc	p.N183I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGATGCAGTTCTCAATGAC	0.478000													37	77					0	0	0.003755	0	0
ABCG8	64241	broad.mit.edu	37	2	44104829	44104829	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:44104829T>A	ENST00000272286.2	+	12	1974		c.e12+2			NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGATAAAGTAAGCGGGGAA	0.507000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	81					0	0	0.001882	0	0
REG1B	5968	broad.mit.edu	37	2	79312665	79312665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:79312665G>C	ENST00000305089.3	-	5	466	c.386C>G	c.(385-387)cCg>cGg	p.P129R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	129	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGCACTGCTCGGGGATCCAGT	0.557000													15	51					0	0	0.004007	0	0
SRCIN1	80725	broad.mit.edu	37	17	36720486	36720486	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:36720486A>G	ENST00000264659.7	-	4	633	c.409T>C	c.(409-411)Tcc>Ccc	p.S137P	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.S171P	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	154					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GAGGCGTAGGACAGCTTTGCC	0.687000													3	5					0	0	0.004672	0	0
DOK6	220164	broad.mit.edu	37	18	67406203	67406203	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:67406203T>C	ENST00000382713.5	+	6	792	c.602T>C	c.(601-603)aTg>aCg	p.M201T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	201	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCACAGAATGTGTGACACA	0.453000													30	77					0	0	0.002445	0	0
MED26	9441	broad.mit.edu	37	19	16687968	16687968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:16687968C>T	ENST00000263390.3	-	3	935	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A233T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	225					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GGTCGCACGGCGTTGACGGGG	0.672000													16	48					0	0	0.003163	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:125555397G>A	ENST00000522532.1	+	2	218	c.171G>A	c.(169-171)atG>atA	p.M57I	NDUFB9_ENST00000518008.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000517367.1_Missense_Mutation_p.M46I|NDUFB9_ENST00000276689.3_Missense_Mutation_p.M57I			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	57					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAAGGATATGGCGAAGGCCA	0.463000													29	24					0	0	0.006320	0	0
CCDC158	339965	broad.mit.edu	37	4	77303790	77303790	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:77303790C>A	ENST00000388914.3	-	7	1039	c.887G>T	c.(886-888)aGt>aTt	p.S296I	CCDC158_ENST00000434846.2_Missense_Mutation_p.S296I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	296										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTCTGGATACTATTGGCTTG	0.333000													12	38					0.00010058	0.000212745	0.001368	1	0
PAPPA2	60676	broad.mit.edu	37	1	176640251	176640251	+	Splice_Site	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:176640251G>A	ENST00000367662.3	+	4	3301	c.2137_splice	c.e4+1	p.G713_splice	PAPPA2_ENST00000367661.3_Splice_Site_p.G713_splice	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	713	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTCACCTGGGTAAGTGAAA	0.468000													27	71					0	0	0.003954	0	0
NMUR1	10316	broad.mit.edu	37	2	232390111	232390111	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:232390111G>C	ENST00000305141.4	-	3	1057	c.924C>G	c.(922-924)atC>atG	p.I308M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	308					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCCCAGCAGATGCCAAACA	0.657000													7	36					0	0	0.003080	0	0
C19orf35	374872	broad.mit.edu	37	19	2276353	2276353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:2276353C>T	ENST00000342063.3	-	4	841	c.748G>A	c.(748-750)Gca>Aca	p.A250T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	250										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCACTGCGCCTCTCCAG	0.711000													7	16					0	0	0.001984	0	0
GBP1	2633	broad.mit.edu	37	1	89523674	89523674	+	Splice_Site	SNP	C	C	A	rs139189718	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:89523674C>A	ENST00000370473.4	-	6	1094		c.e6+1			NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.?(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGGGACTTACGAGGCCCGTT	0.423000													28	63					3.65163e-15	9.67382e-15	0.006320	1	0
NAV3	89795	broad.mit.edu	37	12	78400711	78400711	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:78400711C>A	ENST00000397909.2	+	8	1566	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	NAV3_ENST00000536525.2_Missense_Mutation_p.P465T|NAV3_ENST00000228327.6_Missense_Mutation_p.P465T|NAV3_ENST00000266692.7_Missense_Mutation_p.P465T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	465						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTGCTACAGCCAAAGGAAAA	0.408000										HNSCC(70;0.22)			12	56					2.80697e-09	6.67069e-09	0.000978	1	0
PSD	5662	broad.mit.edu	37	10	104173584	104173584	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:104173584G>T	ENST00000020673.5	-	5	2021	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T	PSD_ENST00000406432.1_Missense_Mutation_p.P499T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	499					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGACTAGGGGGCTCCCTCCCT	0.632000													9	33					1.33987e-11	3.36216e-11	0.000673	1	0
GRM1	2911	broad.mit.edu	37	6	146720036	146720036	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146720036C>A	ENST00000392299.2	+	8	2331	c.1861C>A	c.(1861-1863)Cca>Aca	p.P621T	GRM1_ENST00000507907.1_Missense_Mutation_p.P621T|GRM1_ENST00000282753.1_Missense_Mutation_p.P621T|GRM1_ENST00000355289.4_Missense_Mutation_p.P621T|GRM1_ENST00000492807.2_Missense_Mutation_p.P621T|GRM1_ENST00000361719.2_Missense_Mutation_p.P621T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	621					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGGGACACACCAGTGGTCAA	0.483000													42	195					2.40579e-17	6.54505e-17	0.006230	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321004	79321004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:79321004C>A	ENST00000428286.1	-	8	6309	c.5109G>T	c.(5107-5109)caG>caT	p.Q1703H	PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q2062H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2062					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAGGCCAGCTGCCCACCCT	0.522000													38	114					2.04263e-09	4.88298e-09	0.004289	1	0
NLRP12	91662	broad.mit.edu	37	19	54313274	54313274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54313274C>T	ENST00000324134.6	-	3	1807	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	NLRP12_ENST00000391772.1_Missense_Mutation_p.E547K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E547K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E547K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E547K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E547K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E547K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E547K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	547					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACGCGTACTCGGTCAACAGC	0.572000													44	86					0	0	0.002852	0	0
CLEC7A	64581	broad.mit.edu	37	12	10279171	10279171	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10279171T>A	ENST00000304084.8	-	3	493	c.340_splice	c.e3+1	p.T113_splice	CLEC7A_ENST00000533022.1_Splice_Site_p.T113_splice|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000298523.5_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	113					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGCCCTTGCCTGTGGTTTTGA	0.423000													31	89					0	0	0.002096	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648688	62648688	+	Silent	SNP	T	T	A	rs148015761		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:62648688T>A	ENST00000337910.5	-	6	1075	c.738A>T	c.(736-738)ccA>ccT	p.P246P	RHOBTB1_ENST00000357917.4_Silent_p.P246P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGGACACTCTGGAATTTTGA	0.478000													41	137					0	0	0.001706	0	0
RHPN1	114822	broad.mit.edu	37	8	144459586	144459586	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144459586G>T	ENST00000289013.6	+	4	443	c.342G>T	c.(340-342)ctG>ctT	p.L114L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	114	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCCTGGGCCTGAAGGAGACCA	0.612000													21	20					0.000295444	0.000615254	0.002299	1	0
CTNND2	1501	broad.mit.edu	37	5	11082934	11082934	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:11082934C>G	ENST00000304623.8	-	16	2851	c.2662G>C	c.(2662-2664)Gtc>Ctc	p.V888L	CTNND2_ENST00000359640.2_Missense_Mutation_p.V830L|CTNND2_ENST00000458100.2_Missense_Mutation_p.V455L|CTNND2_ENST00000503622.1_Missense_Mutation_p.V551L|CTNND2_ENST00000511377.1_Missense_Mutation_p.V797L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	888					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTCGGACAGCGGCTCGG	0.532000													30	22					0	0	0.002445	0	0
SZT2	23334	broad.mit.edu	37	1	43903291	43903291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43903291C>T	ENST00000562955.1	+	44	6145	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	SZT2_ENST00000372442.1_Missense_Mutation_p.R1207W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2106						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGCAGTGACCGGCCATGGAA	0.577000													13	41					0	0	0.001368	0	0
AHI1	54806	broad.mit.edu	37	6	135639745	135639745	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:135639745T>G	ENST00000367800.4	-	24	3554	c.3338A>C	c.(3337-3339)cAa>cCa	p.Q1113P	AHI1_ENST00000457866.2_Missense_Mutation_p.Q1113P|AHI1_ENST00000417892.2_Missense_Mutation_p.Q467P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1113						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGCAGTTCTTGATACAGTGC	0.393000													3	9					0	0	0.004672	0	0
INTS1	26173	broad.mit.edu	37	7	1515969	1515969	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:1515969G>A	ENST00000389470.4	-	39	5885	c.5886C>T	c.(5884-5886)atC>atT	p.I1962I	INTS1_ENST00000404767.3_Silent_p.I1758I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1758					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCGGGCCTGGATGAGGCTGC	0.687000													4	6					0	0	0.000602	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012694	73012694	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:73012694G>C	ENST00000308744.6	+	4	832		c.e4-1		NPFFR2_ENST00000358749.3_Splice_Site|NPFFR2_ENST00000344413.5_Splice_Site|NPFFR2_ENST00000395999.1_Splice_Site|NPFFR2_ENST00000506359.1_Splice_Site	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2						detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTAATTGCAGGTTCCAGTGT	0.398000													39	126					0	0	0.006999	0	0
SPO11	23626	broad.mit.edu	37	20	55909825	55909825	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:55909825T>C	ENST00000371263.3	+	6	639	c.530T>C	c.(529-531)tTa>tCa	p.L177S	SPO11_ENST00000345868.4_Missense_Mutation_p.L139S|SPO11_ENST00000371260.4_Missense_Mutation_p.L139S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	177					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAAAGGTTTAATTGCTGGC	0.363000								Editing and processing nucleases					8	23					0	0	0.003080	0	0
RELN	5649	broad.mit.edu	37	7	103270558	103270558	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:103270558G>C	ENST00000424685.2	-	20	2690	c.2531C>G	c.(2530-2532)cCg>cGg	p.P844R	RELN_ENST00000343529.5_Missense_Mutation_p.P844R|RELN_ENST00000428762.1_Missense_Mutation_p.P844R			P78509	RELN_HUMAN	reelin	844					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAATGATACGGTTGCCACCA	0.363000													11	69					0	0	0.000673	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921146	12921146	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:12921146C>A	ENST00000240189.2	+	4	1024	c.937C>A	c.(937-939)Ctc>Atc	p.L313I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	313										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGTGTCTCTCCCAGTT	0.493000													42	175					2.47872e-24	7.17853e-24	0.002522	1	0
DPPA4	55211	broad.mit.edu	37	3	109049491	109049491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:109049491C>A	ENST00000335658.6	-	5	613	c.559G>T	c.(559-561)Gag>Tag	p.E187*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	187						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAACTCCCTCAAGGAGAGCA	0.577000													20	75					8.00594e-06	1.74832e-05	0.000958	1	0
CYP3A4	1576	broad.mit.edu	37	7	99358513	99358513	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:99358513G>T	ENST00000354593.2	-	7	998	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CYP3A4_ENST00000336411.2_Missense_Mutation_p.L449I			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	449					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)	ATGTTCATGAGAGCAAACCTC	0.383000													36	85					6.05902e-23	1.73606e-22	0.003755	1	0
ABLIM2	84448	broad.mit.edu	37	4	8037890	8037890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:8037890G>A	ENST00000318888.4	-	10	1175	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ABLIM2_ENST00000407564.3_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000447017.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000296372.8_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000514025.1_Nonsense_Mutation_p.Q102*|ABLIM2_ENST00000428004.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000361737.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000545242.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000505872.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000341937.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000546334.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000361581.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000515079.1_5'UTR			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	345	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCGTAGCTCTGCCTGTCCCCT	0.592000													4	13					0	0	0.000248	0	0
IL10RA	3587	broad.mit.edu	37	11	117869498	117869498	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:117869498C>A	ENST00000227752.3	+	7	999	c.879C>A	c.(877-879)atC>atA	p.I293I	IL10RA_ENST00000545409.1_Silent_p.I144I|IL10RA_ENST00000541785.1_Silent_p.I273I|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	293						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AAGACACCATCCACCCGCTTG	0.577000													13	45					0.00136819	0.00279874	0.001368	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212351	26212351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:26212351G>T	ENST00000379034.1	+	2	537	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	130	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTGCCAACGGCCAAGATGA	0.557000													36	51					3.03874e-20	8.52535e-20	0.003271	1	0
USP6NL	9712	broad.mit.edu	37	10	11505159	11505159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:11505159C>T	ENST00000379237.1	-	15	2162	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	USP6NL_ENST00000277575.5_Missense_Mutation_p.A607T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	590						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTTGGCTCAGCGTGCTTTCTC	0.562000													18	24					0	0	0.004990	0	0
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:100701061C>A	ENST00000370132.3	-	3	195	c.182G>T	c.(181-183)cGt>cTt	p.R61L	DBT_ENST00000370131.3_Missense_Mutation_p.R61L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333000													9	22					5.4927e-09	1.28269e-08	0.004482	1	0
CALCOCO1	57658	broad.mit.edu	37	12	54115880	54115880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:54115880G>A	ENST00000548263.1	-	5	586	c.538C>T	c.(538-540)Cga>Tga	p.R180*	CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.R147*|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.R180*|CALCOCO1_ENST00000550804.1_Nonsense_Mutation_p.R180*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	180	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTGCACTCGGCTCCTCAGC	0.607000													32	81					0	0	0.001786	0	0
NLN	57486	broad.mit.edu	37	5	65118660	65118660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:65118660G>T	ENST00000380985.5	+	13	2210	c.2032G>T	c.(2032-2034)Ggc>Tgc	p.G678C	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Missense_Mutation_p.G574C	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	678					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATCTCTGGACGGCATGGACAT	0.413000													28	42					7.26314e-15	1.9054e-14	0.007291	1	0
NSD1	64324	broad.mit.edu	37	5	176710803	176710803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:176710803G>A	ENST00000439151.2	+	20	6070	c.6025G>A	c.(6025-6027)Gct>Act	p.A2009T	NSD1_ENST00000354179.4_Missense_Mutation_p.A1740T|NSD1_ENST00000347982.4_Missense_Mutation_p.A1740T|NSD1_ENST00000361032.4_Missense_Mutation_p.A1906T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2009	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATCATTGATGCTGGTCCCAA	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	72					0	0	0.004656	0	0
OR10A3	26496	broad.mit.edu	37	11	7960256	7960256	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:7960256T>C	ENST00000360759.3	-	1	885	c.812A>G	c.(811-813)aAg>aGg	p.K271R		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATCAGTTTCTTGGTTTCGGG	0.443000													11	56					0	0	0.000673	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346945	140346945	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140346945G>A	ENST00000289269.5	+	1	1126	c.594G>A	c.(592-594)aaG>aaA	p.K198K	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		198	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCTTAAGCCCCTGCAGG	0.612000													5	16					0	0	0.000602	0	0
NF1	4763	broad.mit.edu	37	17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.T700S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACCCTGACACTGAAGCTGTT	0.552000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	107					0	0	0.004672	0	0
NLRP12	91662	broad.mit.edu	37	19	54313275	54313275	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54313275G>C	ENST00000324134.6	-	3	1806	c.1638C>G	c.(1636-1638)acC>acG	p.T546T	NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T|NLRP12_ENST00000345770.5_Silent_p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	546					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGCGTACTCGGTCAACAGCC	0.567000													44	89					0	0	0.002852	0	0
ASXL3	80816	broad.mit.edu	37	18	31226289	31226289	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:31226289G>A	ENST00000269197.5	+	4	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATATGGCCGAGGCAAATGCCC	0.383000													17	45					0	0	0.006122	0	0
DMBT1	1755	broad.mit.edu	37	10	124358568	124358568	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124358568T>A	ENST00000338354.3	+	26	3341	c.3235T>A	c.(3235-3237)Tcc>Acc	p.S1079T	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.S580T|DMBT1_ENST00000368956.2_Missense_Mutation_p.S580T|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1079T|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1069T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1079	SRCR 8.				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	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			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)				TGGCTGGCTCTCCCACAACTG	0.572000													7	180					0	0	0.002450	0	0
EPPK1	83481	broad.mit.edu	37	8	144940823	144940823	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144940823A>G	ENST00000525985.1	-	2	6670	c.6599T>C	c.(6598-6600)cTg>cCg	p.L2200P				P58107	EPIPL_HUMAN	epiplakin 1	2200						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)			TCCCGTTTCCAGGTCCTGGAG	0.592000													5	291					0	0	0.001984	0	0
OR2B2	81697	broad.mit.edu	37	6	27879226	27879226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:27879226G>A	ENST00000303324.2	-	1	948	c.872C>T	c.(871-873)aCa>aTa	p.T291I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTTCCTAAGTGTATATATAAG	0.398000													10	44					0	0	0.000673	0	0
ERCC3	2071	broad.mit.edu	37	2	128036885	128036885	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:128036885A>G	ENST00000493187.2	-	10	1865	c.1402T>C	c.(1402-1404)Ttg>Ctg	p.L468L	ERCC3_ENST00000285398.2_Silent_p.L532L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	532	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTGTACAGCAAGATTCGTTTC	0.403000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	38					0	0	0.000673	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459041	45459041	+	RNA	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:45459041G>C	ENST00000548424.1	+	0	448																											TTCACCAACTGGATAAATTGG	0.433000													15	31					0	0	0.003163	0	0
TEX9	374618	broad.mit.edu	37	15	56683602	56683602	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:56683602A>T	ENST00000558083.2	+	6	662	c.332A>T	c.(331-333)aAt>aTt	p.N111I	TEX9_ENST00000561221.2_Missense_Mutation_p.N186I|TEX9_ENST00000352903.2_Missense_Mutation_p.N186I|TEX9_ENST00000537232.1_Missense_Mutation_p.N111I			Q8N6V9	TEX9_HUMAN	testis expressed 9	186										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GGTGTTAGTAATGACATTGGA	0.313000													11	27					0	0	0.000673	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84564687	84564687	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:84564687T>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TATCCTGCAATGATTAGACAG	0.478000													14	12					0	0	0.004990	0	0
AKAP12	9590	broad.mit.edu	37	6	151673477	151673477	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:151673477T>A	ENST00000402676.2	+	4	4191	c.3951T>A	c.(3949-3951)gaT>gaA	p.D1317E	AKAP12_ENST00000354675.6_Missense_Mutation_p.D1219E|AKAP12_ENST00000359755.5_Missense_Mutation_p.D1212E|AKAP12_ENST00000253332.1_Missense_Mutation_p.D1317E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1317					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTAAAAAGGATGATGCTCTTG	0.478000													23	77					0	0	0.002299	0	0
DMBT1	1755	broad.mit.edu	37	10	124339338	124339338	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124339338C>T	ENST00000338354.3	+	10	1030	c.924C>T	c.(922-924)tcC>tcT	p.S308S	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.S308S|DMBT1_ENST00000368956.2_Silent_p.S308S|DMBT1_ENST00000368955.3_Silent_p.S308S|DMBT1_ENST00000368909.3_Silent_p.S308S|DMBT1_ENST00000344338.3_Silent_p.S308S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	308	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	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			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)				GACATGAGTCCTACCTGTGGA	0.597000													59	131					0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5222178	5222178	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5222178T>A	ENST00000372412.4	-	19	3393	c.3160A>T	c.(3160-3162)Agc>Tgc	p.S1054C	PTPRS_ENST00000357368.4_Missense_Mutation_p.S1053C|PTPRS_ENST00000353284.2_Missense_Mutation_p.S622C|PTPRS_ENST00000348075.2_Missense_Mutation_p.S1031C|PTPRS_ENST00000592099.1_Missense_Mutation_p.S622C|PTPRS_ENST00000262963.6_Missense_Mutation_p.S1049C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.S1031C|PTPRS_ENST00000587303.1_Missense_Mutation_p.S1053C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1053	Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACTCCCAGCTGAGCAGAACT	0.587000													26	71					0	0	0.005443	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966279	88966279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:88966279G>A	ENST00000333190.4	+	4	4592	c.3983G>A	c.(3982-3984)tGc>tAc	p.C1328Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1328						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCATTCTTGCTCTAGCCAG	0.393000										HNSCC(36;0.09)			16	58					0	0	0.003163	0	0
WHSC1	7468	broad.mit.edu	37	4	1936943	1936943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:1936943A>T	ENST00000503128.1	+	7	1835	c.1628A>T	c.(1627-1629)gAc>gTc	p.D543V	WHSC1_ENST00000398261.1_Missense_Mutation_p.D543V|WHSC1_ENST00000420906.2_Missense_Mutation_p.D543V|WHSC1_ENST00000514045.1_Missense_Mutation_p.D543V|WHSC1_ENST00000382892.2_Missense_Mutation_p.D543V|WHSC1_ENST00000382895.3_Missense_Mutation_p.D543V|WHSC1_ENST00000508803.1_Missense_Mutation_p.D543V|WHSC1_ENST00000382891.5_Missense_Mutation_p.D543V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	543					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAGCTGAGGACACACCCAGG	0.458000			T	IGH@	MM								15	39					0	0	0.002450	0	0
CAMK4	814	broad.mit.edu	37	5	110819999	110819999	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:110819999G>A	ENST00000282356.4	+	11	1655	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.K419K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	419					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGTGCCCAAGGCAGTGGAGG	0.537000													15	35					0	0	0.006122	0	0
BRINP1	1620	broad.mit.edu	37	9	121929752	121929752	+	Missense_Mutation	SNP	C	C	A	rs112348256	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:121929752C>A	ENST00000265922.3	-	8	2357	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		632					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCTGGCCAGTCTCATTTCGCA	0.537000													91	97					6.03982e-29	1.7618e-28	0.003610	1	0
SLC45A4	57210	broad.mit.edu	37	8	142231850	142231850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:142231850A>G	ENST00000519067.1	-	2	406	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	SLC45A4_ENST00000517878.1_Missense_Mutation_p.Y86H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Y28H|SLC45A4_ENST00000024061.3_Missense_Mutation_p.Y35H			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	86					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGCTGTAGTACTGCTCCGGA	0.662000													37	28					0	0	0.004289	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	51					0	0	0.002445	0	0
POLQ	10721	broad.mit.edu	37	3	121208845	121208845	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:121208845T>C	ENST00000264233.5	-	16	3061	c.2933A>G	c.(2932-2934)cAa>cGa	p.Q978R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	978					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGATGTTCTTGATTCCCATT	0.353000								DNA polymerases (catalytic subunits)					16	44					0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2823313	2823313	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:2823313G>T	ENST00000602557.1	-	60	9822	c.9267C>A	c.(9265-9267)agC>agA	p.S3089R	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3089R|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3088R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3089	Sushi 24.					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)		AGACAGGTTTGCTCGGATTCC	0.413000													7	10					0.000274275	0.000572647	0.004482	1	0
FSHR	2492	broad.mit.edu	37	2	49381534	49381534	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49381534A>G	ENST00000406846.2	-	1	142	c.23T>C	c.(22-24)tTg>tCg	p.L8S	FSHR_ENST00000346173.3_Missense_Mutation_p.L8S|FSHR_ENST00000304421.4_Missense_Mutation_p.L8S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	8					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAATGCCAGCAAAGAGACCAG	0.488000									Gonadal Dysgenesis, 46 XX				9	45					0	0	0.000673	0	0
RIN3	79890	broad.mit.edu	37	14	93125658	93125658	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:93125658C>G	ENST00000216487.7	+	7	2338	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	727	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACCACTGACCTAGGTGTGAC	0.552000													33	102					0	0	0.001786	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913658	39913658	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:39913658G>T	ENST00000425673.1	+	16	2202	c.1877G>T	c.(1876-1878)cGc>cTc	p.R626L	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R655L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGGTTCTCGCCTTCCTAGT	0.527000													46	127					5.34276e-22	1.52005e-21	0.003610	1	0
CPAMD8	27151	broad.mit.edu	37	19	17104378	17104378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:17104378C>A	ENST00000443236.1	-	12	1286	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D372Y	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	372						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						GGGCTGCCATCGGGGTAGGAT	0.532000													13	33					3.27435e-08	7.55908e-08	0.002450	1	0
CADPS2	93664	broad.mit.edu	37	7	122221318	122221318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:122221318G>T	ENST00000334010.7	-	7	1671	c.1250C>A	c.(1249-1251)aCc>aAc	p.T417N	CADPS2_ENST00000412584.2_Missense_Mutation_p.T417N|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Missense_Mutation_p.T417N|CADPS2_ENST00000449022.2_Missense_Mutation_p.T417N	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	417	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGATGGGTGGTGGTGAAATC	0.443000													16	101					3.41278e-10	8.3309e-10	0.004990	1	0
PRSS54	221191	broad.mit.edu	37	16	58325037	58325037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58325037C>T	ENST00000219301.4	-	4	483	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	PRSS54_ENST00000567164.1_Missense_Mutation_p.C30Y|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	30					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGACGCCACAACCTGCGGA	0.622000													11	24					0	0	0.000978	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265101	41265101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41265101C>T	ENST00000357137.4	+	2	247	c.163C>T	c.(163-165)Cca>Tca	p.P55S	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P55S|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P32S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P55S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	55					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTTACACACCCACACCTCCT	0.488000													27	92					0	0	0.005443	0	0
PLCB1	23236	broad.mit.edu	37	20	8737765	8737765	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:8737765C>A	ENST00000378641.3	+	24	3071	c.2596C>A	c.(2596-2598)Cac>Aac	p.H866N	PLCB1_ENST00000338037.6_Missense_Mutation_p.H866N|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.H866N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	866					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGGTGAATCACACTACAAC	0.498000													24	34					1.85244e-09	4.44146e-09	0.003330	1	0
TLR8	51311	broad.mit.edu	37	X	12939289	12939289	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12939289T>C	ENST00000218032.6	+	2	2217	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	TLR8_ENST00000311912.5_Silent_p.F728F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	710					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATCTGACTTTACATCTTCCC	0.428000													40	98					0	0	0.001951	0	0
RASAL1	8437	broad.mit.edu	37	12	113541858	113541858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:113541858G>T	ENST00000546530.1	-	19	2285	c.2000C>A	c.(1999-2001)tCg>tAg	p.S667*	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.S637*|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.S666*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.S665*	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	665	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGCAAGGCCGAGAGCCACTG	0.711000													3	15					6.4e-05	0.000137167	0.004672	1	0
VPS13C	54832	broad.mit.edu	37	15	62242607	62242607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:62242607C>A	ENST00000261517.5	-	41	4619	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1516Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1516					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTGGTCCATCACTGTCTGCC	0.313000													5	15					0.000602214	0.00124447	0.000602	1	0
SON	6651	broad.mit.edu	37	21	34927512	34927512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:34927512G>A	ENST00000356577.4	+	3	6450	c.5975G>A	c.(5974-5976)aGc>aAc	p.S1992N	SON_ENST00000381679.4_Missense_Mutation_p.S1992N|SON_ENST00000290239.6_Missense_Mutation_p.S1992N|SON_ENST00000300278.4_Missense_Mutation_p.S1992N|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1992	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						agccgtcggagccgcacccca	0.672000													16	39					0	0	0.003163	0	0
ABAT	18	broad.mit.edu	37	16	8851634	8851634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:8851634C>G	ENST00000396600.2	+	6	1275	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ABAT_ENST00000425191.2_Missense_Mutation_p.L113V|ABAT_ENST00000567812.1_Missense_Mutation_p.L128V|ABAT_ENST00000569156.1_Missense_Mutation_p.L113V|ABAT_ENST00000268251.8_Missense_Mutation_p.L113V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	113				L -> V (in Ref. 1; AAA74449).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCCCGCCCTGCTGAAACTCAT	0.522000													11	43					0	0	0.001855	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590672	136590672	+	Missense_Mutation	SNP	G	G	C	rs140624845		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:136590672G>C	ENST00000531224.1	-	9	2374	c.2122C>G	c.(2122-2124)Cgg>Ggg	p.R708G	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R535G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R706G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R708G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R706G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R706G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	708					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATCTCCCCGTTCTTTACTT	0.388000													10	74					0	0	0.004007	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530436	5530436	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5530436G>T	ENST00000311659.4	-	2	500	c.353C>A	c.(352-354)cCt>cAt	p.P118H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	118										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGGCTGAGGGAGTGATCC	0.607000													14	36					4.3838e-07	9.94975e-07	0.001855	1	0
NIPA1	123606	broad.mit.edu	37	15	23049038	23049038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23049038C>A	ENST00000437912.2	-	5	1853	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	NIPA1_ENST00000337435.4_Missense_Mutation_p.G261W|NIPA1_ENST00000538684.1_Missense_Mutation_p.G91W|NIPA1_ENST00000561183.1_Missense_Mutation_p.G186W			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	261					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TAGATGGCCCCGAACACCGAG	0.607000													12	21					0.00010058	0.000212745	0.001368	1	0
LPIN2	9663	broad.mit.edu	37	18	2937737	2937737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:2937737G>A	ENST00000261596.4	-	7	1359	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	374					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTGGATTCTGAGGGCGCCTC	0.463000													20	74					0	0	0.001216	0	0
HKR1	284459	broad.mit.edu	37	19	37838218	37838218	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:37838218G>C	ENST00000324411.4	+	4	486	c.217_splice	c.e4+1	p.E73_splice	HKR1_ENST00000589392.1_Splice_Site_p.E54_splice|HKR1_ENST00000392153.3_Splice_Site_p.E54_splice|HKR1_ENST00000586897.1_Splice_Site_p.E12_splice|HKR1_ENST00000592168.1_Splice_Site_p.E12_splice|HKR1_ENST00000591417.1_Splice_Site_p.E12_splice|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000591259.1_Splice_Site_p.E54_splice|HKR1_ENST00000591134.1_Splice_Site_p.E12_splice|HKR1_ENST00000544914.1_Intron|HKR1_ENST00000541583.2_Splice_Site_p.E12_splice	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	73	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCACTGGGTAAGAATGG	0.522000													21	40					0	0	0.001523	0	0
SGCB	6443	broad.mit.edu	37	4	52895030	52895030	+	Missense_Mutation	SNP	T	T	C	rs116157710	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:52895030T>C	ENST00000381431.5	-	4	709	c.487A>G	c.(487-489)Aca>Gca	p.T163A	SGCB_ENST00000535450.1_Missense_Mutation_p.T93A	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	163	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATGTCACTTGTAATAGAAGTT	0.343000													3	49					0	0	0.000248	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737775	7737775	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:7737775G>T	ENST00000303635.7	+	11	3103	c.2896G>T	c.(2896-2898)Gac>Tac	p.D966Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D966Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCCCAGCACGACTGGCTGTC	0.557000			T	WWTR1	epitheliod hemangioendothelioma								21	52					2.32416e-17	6.34432e-17	0.002299	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734346	12734346	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12734346A>G	ENST00000380682.1	+	15	2274	c.1768A>G	c.(1768-1770)Aaa>Gaa	p.K590E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	590					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATGTGTCCAAAAGAGCACCG	0.507000													30	67					0	0	0.006320	0	0
CNOT3	4849	broad.mit.edu	37	19	54646740	54646740	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54646740G>T	ENST00000406403.1	+	1	1628		c.e1+1		CNOT3_ENST00000358389.3_Splice_Site|CNOT3_ENST00000221232.5_Splice_Site			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAACTCCAAGGTACTAGACTG	0.537000													20	81					1.96292e-10	4.85028e-10	0.001523	1	0
ZNF140	7699	broad.mit.edu	37	12	133682776	133682776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133682776G>T	ENST00000355557.2	+	5	2196	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonsense_Mutation_p.E202*	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCATTGAATGTGGGAA	0.408000													20	48					2.94398e-08	6.81587e-08	0.000958	1	0
KLC3	147700	broad.mit.edu	37	19	45852823	45852823	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:45852823C>A	ENST00000470402.1	+	7	1248	c.1148C>A	c.(1147-1149)cCc>cAc	p.P383H	KLC3_ENST00000585434.1_Missense_Mutation_p.P368H|KLC3_ENST00000391946.2_Missense_Mutation_p.P369H			Q6P597	KLC3_HUMAN	kinesin light chain 3	369						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGCGGGCCCCATGACCCC	0.647000													13	33					4.7546e-09	1.11678e-08	0.004007	1	0
CYP4F3	4051	broad.mit.edu	37	19	15770178	15770178	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:15770178G>C	ENST00000221307.7	+	13	1594	c.1546G>C	c.(1546-1548)Gtg>Ctg	p.V516L	CYP4F3_ENST00000591058.1_Missense_Mutation_p.V516L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.V516L|CYP4F3_ENST00000585846.1_Missense_Mutation_p.V516L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	516					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTGGCTGCGGGTGGAGCCCCT	0.622000													6	25					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179411788	179411788	+	Silent	SNP	A	A	T	rs138888307	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179411788A>T	ENST00000589042.1	-	340	94688	c.94464T>A	c.(94462-94464)gcT>gcA	p.A31488A	TTN_ENST00000342992.6_Silent_p.A28920A|TTN_ENST00000359218.5_Silent_p.A22548A|TTN_ENST00000591111.1_Silent_p.A29847A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A22615A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A22423A|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29847	Ig-like 140.						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)			TAACACCTGCAGCATTGAGTG	0.393000													52	191					0	0	0.003610	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450706	41450706	+	RNA	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:41450706G>C	ENST00000599198.1	+	0	1297					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCACTTTCTGGATGCCAATGG	0.498000													43	144					0	0	0.003214	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407522	148407522	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:148407522C>A	ENST00000538184.1	-	7	1302	c.414G>T	c.(412-414)ctG>ctT	p.L138L	SH3TC2_ENST00000512049.1_Silent_p.L584L|SH3TC2_ENST00000515425.1_Silent_p.L591L|SH3TC2_ENST00000394358.2_Silent_p.L476L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	591							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTTCCAACAGGGCGGAGC	0.562000													20	37					1.64113e-05	3.55506e-05	0.001523	1	0
HERC5	51191	broad.mit.edu	37	4	89414186	89414186	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:89414186G>A	ENST00000264350.3	+	17	2310	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	HERC5_ENST00000508159.1_Silent_p.G357G	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	719	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAGAAATTGGGTATGACCTCG	0.403000													12	50					0	0	0.002450	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089669	102089669	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:102089669G>T	ENST00000318222.3	-	1	574	c.192C>A	c.(190-192)acC>acA	p.T64T	PKD2L1_ENST00000338519.3_Silent_p.T64T|PKD2L1_ENST00000353274.3_Silent_p.T64T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	64					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGACACCTGGGTCCTGTATG	0.567000													9	60					7.48243e-07	1.68407e-06	0.006214	1	0
MXRA5	25878	broad.mit.edu	37	X	3229299	3229299	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:3229299C>T	ENST00000217939.6	-	7	7099	c.6945G>A	c.(6943-6945)ggG>ggA	p.G2315G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2315	Ig-like C2-type 7.					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)				CCTCCCTCATCCCCACTTCGT	0.547000													46	87					0	0	0.003610	0	0
UNC5C	8633	broad.mit.edu	37	4	96140416	96140416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:96140416C>G	ENST00000453304.1	-	9	1697	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	UNC5C_ENST00000506749.1_Missense_Mutation_p.R469T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	450					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GACAGGTCCTCTGTACATGGC	0.493000													84	224					0	0	0.003610	0	0
PSG11	5680	broad.mit.edu	37	19	43519501	43519501	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:43519501A>T	ENST00000401740.1	-	4	834	c.731T>A	c.(730-732)aTt>aAt	p.I244N	PSG11_ENST00000403486.1_Missense_Mutation_p.I122N|PSG11_ENST00000320078.7_Missense_Mutation_p.I244N|PSG11_ENST00000306322.7_Missense_Mutation_p.I122N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	244	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGAAGGGAAAATTCTGGGGAG	0.478000													28	132					0	0	0.006320	0	0
MEGF11	84465	broad.mit.edu	37	15	66249955	66249955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:66249955G>T	ENST00000409699.2	-	10	1389	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H	MEGF11_ENST00000360698.4_Missense_Mutation_p.P406H|MEGF11_ENST00000395625.2_Missense_Mutation_p.P331H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.P331H|MEGF11_ENST00000422354.1_Missense_Mutation_p.P406H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	406	EGF-like 7.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACAGGTGCAAGGCAGCTGGCA	0.612000													9	19					1.12685e-05	2.44757e-05	0.004482	1	0
CCDC40	55036	broad.mit.edu	37	17	78011950	78011950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:78011950G>C	ENST00000397545.4	+	2	85	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	CCDC40_ENST00000269318.5_Missense_Mutation_p.E20Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.E20Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E20Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	20					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGGCTTCTGAGGGAGAGAA	0.418000													5	35					0	0	0.001168	0	0
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	G	C	rs140423684		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2321165G>C	ENST00000381458.5	+	13	2083	c.2020G>C	c.(2020-2022)Gac>Cac	p.D674H		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602000													29	72					0	0	0.001786	0	0
MMRN1	22915	broad.mit.edu	37	4	90856410	90856410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:90856410T>A	ENST00000394980.1	+	7	1898	c.1579T>A	c.(1579-1581)Tca>Aca	p.S527T	MMRN1_ENST00000508372.1_Missense_Mutation_p.S269T|MMRN1_ENST00000264790.2_Missense_Mutation_p.S527T|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	527					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAACAGGTATCAGACCAGAA	0.363000													18	62					0	0	0.004990	0	0
SGCE	8910	broad.mit.edu	37	7	94259126	94259126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:94259126G>T	ENST00000415788.2	-	3	332	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	SGCE_ENST00000447873.1_Missense_Mutation_p.S46Y|SGCE_ENST00000445866.2_Missense_Mutation_p.S46Y|SGCE_ENST00000265735.7_Missense_Mutation_p.S46Y|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000428696.2_Missense_Mutation_p.S46Y			O43556	SGCE_HUMAN	sarcoglycan, epsilon	46					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTCCGATCGGAGTGTACCTT	0.398000													10	81					0.000442599	0.000919332	0.006214	1	0
ZNF808	388558	broad.mit.edu	37	19	53058333	53058333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:53058333C>A	ENST00000359798.4	+	5	2344	c.2164C>A	c.(2164-2166)Ctt>Att	p.L722I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGGTCATCCCTTGTATGCCA	0.443000													7	265					0.00307968	0.00623654	0.003080	1	0
AHNAK	79026	broad.mit.edu	37	11	62284353	62284353	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:62284353C>A	ENST00000378024.4	-	5	17810	c.17536G>T	c.(17536-17538)Ggc>Tgc	p.G5846C	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5846					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTAACTTGCCTGTCTCATCA	0.512000													32	106					3.90053e-15	1.02994e-14	0.002445	1	0
KMT2C	58508	broad.mit.edu	37	7	151845956	151845956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151845956C>T	ENST00000355193.2	-	53	13445	c.13227G>A	c.(13225-13227)tgG>tgA	p.W4409*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W4352*					lysine (K)-specific methyltransferase 2C																		TCATTCCTCTCCATTTTTTAT	0.433000													11	41					0	0	0.000673	0	0
HTR1E	3354	broad.mit.edu	37	6	87725251	87725251	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:87725251A>G	ENST00000305344.4	+	2	902	c.199A>G	c.(199-201)Acg>Gcg	p.T67A	HTR1E_ENST00000369584.1_Missense_Mutation_p.T67A	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTGGCCGTGACGGACCTCCT	0.557000													29	83					0	0	0.005443	0	0
PMS1	5378	broad.mit.edu	37	2	190670532	190670532	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:190670532G>T	ENST00000409985.1	+	4	634	c.470G>T	c.(469-471)tGt>tTt	p.C157F	PMS1_ENST00000374826.4_Intron|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000441310.2_Intron|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000418224.3_Intron|PMS1_ENST00000409823.3_Intron			P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	0					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGTCTTAATTGTTGGTTTAAA	0.353000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					6	17					0.00116845	0.0023962	0.001168	1	0
TRIM3	10612	broad.mit.edu	37	11	6477901	6477901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6477901C>G	ENST00000525074.1	-	6	1449	c.1055G>C	c.(1054-1056)gGg>gCg	p.G352A	TRIM3_ENST00000359518.3_Missense_Mutation_p.G352A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G352A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.G233A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G274A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	352					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCAACCGCCCGTCCTTGTC	0.672000													18	57					0	0	0.001216	0	0
SPATA19	219938	broad.mit.edu	37	11	133714155	133714155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:133714155C>G	ENST00000299140.3	-	4	399	c.345G>C	c.(343-345)caG>caC	p.Q115H	SPATA19_ENST00000532889.1_Missense_Mutation_p.Q115H	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	115					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.Q115H(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTTATGAACTGGATTCGTG	0.537000													38	65					0	0	0.005524	0	0
OR9G1	390174	broad.mit.edu	37	11	56468409	56468409	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:56468409C>T	ENST00000312153.1	+	1	546	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATTTGCTTCCCTTGGTGGAGC	0.468000													28	105					0	0	0.005443	0	0
SRXN1	140809	broad.mit.edu	37	20	629443	629443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:629443C>A	ENST00000381962.3	-	2	513	c.329G>T	c.(328-330)cGa>cTa	p.R110L	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	110					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GATGGTCTCTCGCTGCAGTTG	0.607000													27	77					2.44723e-14	6.39923e-14	0.004656	1	0
MRPL10	124995	broad.mit.edu	37	17	45901757	45901757	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:45901757C>T	ENST00000290208.7	-	5	1082	c.630G>A	c.(628-630)ctG>ctA	p.L210L	MRPL10_ENST00000414011.1_Silent_p.L210L|MRPL10_ENST00000351111.2_Silent_p.L200L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	200					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCACCAGGGGCAGGCTGGGGA	0.617000													21	41					0	0	0.002299	0	0
RASSF3	283349	broad.mit.edu	37	12	65085357	65085357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:65085357G>A	ENST00000542104.1	+	4	685	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E189K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	189	SARAH.				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)		TGAAATTGGAGAGGTAAGTTA	0.453000													6	23					0	0	0.001984	0	0
MIR551B	693136	broad.mit.edu	37	3	168269715	168269715	+	RNA	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:168269715G>C	ENST00000384984.1	+	0	74					NR_030294.1																						ACCCATACTTGGTTTCAGAGG	0.433000													16	80					0	0	0.004007	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768471	31768471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:31768471G>A	ENST00000355459.2	+	1	80	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	23						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCACTACCCAGCCTCCTCCTG	0.567000													60	95					0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34960984	34960984	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:34960984C>A	ENST00000329357.5	+	1	72	c.36C>A	c.(34-36)tcC>tcA	p.S12S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	12										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGCCAAGGTCCCAAGGCATGG	0.632000													7	15					0.000157383	0.000331161	0.003080	1	0
PEAK1	79834	broad.mit.edu	37	15	77425541	77425541	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:77425541T>A	ENST00000560626.2	-	6	4358	c.3883A>T	c.(3883-3885)Aca>Tca	p.T1295S	PEAK1_ENST00000312493.4_Missense_Mutation_p.T1295S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1295					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AAGGCATCTGTATGAAGGCTT	0.507000													41	110					0	0	0.001951	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719217	140719217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140719217C>T	ENST00000394576.2	+	1	679	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCTCCCGCATCTGCGT	0.597000													14	47					0	0	0.002450	0	0
CRB1	23418	broad.mit.edu	37	1	197396759	197396759	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:197396759G>A	ENST00000367397.1	+	3	1305	c.447G>A	c.(445-447)gaG>gaA	p.E149E	CRB1_ENST00000535699.1_Silent_p.E699E|CRB1_ENST00000544212.1_Silent_p.E249E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.E656E|CRB1_ENST00000367400.3_Silent_p.E768E			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	768	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGGCTAGAGCGCGGCAGAC	0.418000													20	19					0	0	0.001882	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361997	72361997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:72361997G>A	ENST00000001146.2	-	4	957	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177W|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61W	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.R252R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCTTCTCCCGGATGGCCTTC	0.602000													18	36					0	0	0.001523	0	0
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:113353910G>T	ENST00000297405.5	-	42	6692	c.6448C>A	c.(6448-6450)Cat>Aat	p.H2150N	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2080N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2110N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2046N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2150	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGGAGATGTACACCTGAA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	14					5.03518e-11	1.25569e-10	0.000958	1	0
IGHV4-34	28395	broad.mit.edu	37	14	106830017	106830017	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:106830017T>A	ENST00000390616.2	-	0	59																											GAACCACAGGTGTTTCATGTT	0.502000													9	41					0	0	0.006214	0	0
EPHA6	285220	broad.mit.edu	37	3	96533514	96533514	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:96533514A>T	ENST00000389672.5	+	1	85	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	EPHA6_ENST00000470610.2_Missense_Mutation_p.Q16L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCGGCGCCGCAGGCAGCGTCC	0.711000													14	24					0	0	0.002450	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518437	7518437	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:7518437A>T	ENST00000359920.6	+	7	1629	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S417C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.E301V	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AAGGTCAGTGAGTGTGAGAAG	0.542000													27	76					0	0	0.004656	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	75					0	0	0.000602	0	0
COL1A1	1277	broad.mit.edu	37	17	48268775	48268775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:48268775G>A	ENST00000225964.5	-	32	2322	c.2204C>T	c.(2203-2205)gCa>gTa	p.A735V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	735	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)	AAGACCAGCTGCACCACGTTC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						25	67					0	0	0.004656	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572117	90572117	+	RNA	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:90572117C>G	ENST00000551025.1	+	0	2126							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGGTCACGTTCTCATTATCAG	0.393000													72	173					0	0	0.003610	0	0
AHSA1	10598	broad.mit.edu	37	14	77929012	77929012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:77929012C>T	ENST00000216479.3	+	4	542	c.382C>T	c.(382-384)Cct>Tct	p.P128S	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.P128S	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	128					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGATGAGCCTGACACAAA	0.463000													19	63					0	0	0.001882	0	0
TACC1	6867	broad.mit.edu	37	8	38699961	38699961	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:38699961A>C	ENST00000379931.3	+	11	2532	c.2153A>C	c.(2152-2154)aAg>aCg	p.K718T	TACC1_ENST00000518415.1_Missense_Mutation_p.K632T|TACC1_ENST00000520615.1_Missense_Mutation_p.K511T|TACC1_ENST00000520611.1_Missense_Mutation_p.K143T|TACC1_ENST00000317827.4_Missense_Mutation_p.K706T|TACC1_ENST00000276520.8_Missense_Mutation_p.K296T|TACC1_ENST00000520973.1_Missense_Mutation_p.K482T|TACC1_ENST00000348567.4_Missense_Mutation_p.K268T|TACC1_ENST00000519416.1_Missense_Mutation_p.K510T|TACC1_ENST00000330691.6_Missense_Mutation_p.K280T|TACC1_ENST00000443286.2_Missense_Mutation_p.K693T			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	706	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GAAGGGTTCAAGAAGGTAGAG	0.453000													24	63					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179571433	179571433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179571433C>A	ENST00000589042.1	-	102	29392	c.29168G>T	c.(29167-29169)gGt>gTt	p.G9723V	TTN_ENST00000342992.6_Missense_Mutation_p.G8479V|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G9406V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9406	Ig-like 78.						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)			GATTGGGTCACCTCCAACTTT	0.368000													31	98					2.85442e-18	7.84479e-18	0.002096	1	0
OR52D1	390066	broad.mit.edu	37	11	5510098	5510098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5510098G>C	ENST00000322641.5	+	1	184	c.162G>C	c.(160-162)atG>atC	p.M54I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGCCATGGACAATGCTC	0.527000													31	99					0	0	0.002445	0	0
SRCAP	10847	broad.mit.edu	37	16	30745886	30745886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:30745886G>A	ENST00000262518.4	+	31	7064	c.6679G>A	c.(6679-6681)Gaa>Aaa	p.E2227K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2165K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2069K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2227	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCTGCCCCTGAAGAGGAGGA	0.498000													35	93					0	0	0.002836	0	0
DGKK	139189	broad.mit.edu	37	X	50119165	50119165	+	RNA	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:50119165C>A	ENST00000376025.2	-	0	3331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCATTAAGTCTGTAATAAAG	0.478000													13	24					4.7546e-09	1.11678e-08	0.004007	1	0
MYT1L	23040	broad.mit.edu	37	2	1796146	1796146	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:1796146T>C	ENST00000399161.2	-	24	4114	c.3367A>G	c.(3367-3369)Aac>Gac	p.N1123D	MYT1L_ENST00000428368.2_Missense_Mutation_p.N1121D|MYT1L_ENST00000407844.1_Missense_Mutation_p.N121D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1123					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCTCAGGTTCGCCAGCTCG	0.547000													5	12					0	0	0.000602	0	0
POLH	5429	broad.mit.edu	37	6	43581937	43581937	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:43581937G>T	ENST00000372236.4	+	11	2080	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.M533I	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	595			M -> V (in dbSNP:rs9333555).		DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGCAGAGATGGATTTGGCCC	0.488000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				12	53					1.61879e-10	4.01222e-10	0.001368	1	0
VNN1	8876	broad.mit.edu	37	6	133013716	133013716	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:133013716G>T	ENST00000367928.4	-	5	847	c.834C>A	c.(832-834)ggC>ggA	p.G278G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	278	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GTGCATAGATGCCACTTCCTG	0.358000													9	20					1.58986e-06	3.55848e-06	0.000673	1	0
DCAF16	54876	broad.mit.edu	37	4	17805350	17805350	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:17805350C>A	ENST00000382247.1	-	3	1475	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	DCAF16_ENST00000536863.1_Missense_Mutation_p.A139S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	139						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTTAGAGTGGCATGATCTCTA	0.488000													38	105					1.47197e-15	3.92525e-15	0.001706	1	0
WNK4	65266	broad.mit.edu	37	17	40933194	40933194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:40933194A>G	ENST00000246914.5	+	1	499	c.478A>G	c.(478-480)Atg>Gtg	p.M160V		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	160					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGGAGGACATGGAGACCCA	0.627000													19	49					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179458745	179458745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179458745C>T	ENST00000589042.1	-	297	58599	c.58375G>A	c.(58375-58377)Gtg>Atg	p.V19459M	TTN_ENST00000342992.6_Missense_Mutation_p.V16891M|TTN_ENST00000359218.5_Missense_Mutation_p.V10519M|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17818M|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10586M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V10394M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17818	Fibronectin type-III 41.						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)			TCCACAACCACACAGTATTTG	0.403000													43	147					0	0	0.002522	0	0
OR10A7	121364	broad.mit.edu	37	12	55615418	55615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:55615418C>T	ENST00000326258.1	+	1	610	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGCCTCCACACTCCTGTTTAT	0.463000													25	63					0	0	0.003330	0	0
FCRL5	83416	broad.mit.edu	37	1	157514694	157514694	+	Silent	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:157514694A>C	ENST00000361835.3	-	4	643	c.486T>G	c.(484-486)ggT>ggG	p.G162G	FCRL5_ENST00000368191.3_Silent_p.G77G|FCRL5_ENST00000356953.4_Silent_p.G162G|FCRL5_ENST00000368189.3_Silent_p.G162G|FCRL5_ENST00000368190.3_Silent_p.G162G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	162						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCGATATGCACCATTGTCCT	0.363000													13	98					0	0	0.001855	0	0
FER1L5	90342	broad.mit.edu	37	2	97361322	97361322	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:97361322T>A	ENST00000457909.1	+	0	3321							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAAGAGTCCCTGAGGACAGAA	0.592000													4	10					0	0	0.000602	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:146829568C>T	ENST00000361727.3	+	8	1831	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q439K(1)		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)			CAACATCACACAGACCAAGAT	0.423000										HNSCC(39;0.1)			4	32					0	0	0.000248	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657483	100657483	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:100657483A>G	ENST00000416321.1	-	2	348	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	116	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTAAGACAAGAGATGTCATTG	0.363000													23	77					0	0	0.001882	0	0
CYP4V2	285440	broad.mit.edu	37	4	187120147	187120147	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187120147C>T	ENST00000378802.4	+	6	1015	c.711C>T	c.(709-711)ccC>ccT	p.P237P		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	237					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TAAAGATGCCCTGGCTTTGGC	0.368000													15	55					0	0	0.003163	0	0
PROX1	5629	broad.mit.edu	37	1	214171294	214171294	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:214171294C>A	ENST00000366958.4	+	2	2024	c.1416C>A	c.(1414-1416)acC>acA	p.T472T	PROX1_ENST00000498508.2_Silent_p.T472T|PROX1_ENST00000261454.4_Silent_p.T472T|PROX1_ENST00000435016.1_Silent_p.T472T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	472					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTCTGCCACCACGGGCTTCA	0.647000													59	65					9.77497e-20	2.72351e-19	0.003610	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39913657	39913657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:39913657C>T	ENST00000425673.1	+	16	2201	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R655C|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAAGGTTCTCGCCTTCCTAG	0.527000													46	125					0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196712681	196712681	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:196712681G>T	ENST00000367429.4	+	20	3473	c.3233G>T	c.(3232-3234)aGg>aTg	p.R1078M		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1078	Sushi 18.		R -> S (associated with basal laminar drusen).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATCAATGTAGGAGCCCTTAT	0.398000													19	72					2.94398e-08	6.81587e-08	0.000958	1	0
FOXR1	283150	broad.mit.edu	37	11	118850289	118850289	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118850289C>G	ENST00000317011.3	+	4	747	c.522C>G	c.(520-522)ccC>ccG	p.P174P		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	174					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGTCCCGGCCCCCTCTCAATT	0.597000													15	85					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179581892	179581892	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179581892G>T	ENST00000589042.1	-	88	25793	c.25569C>A	c.(25567-25569)gcC>gcA	p.A8523A	TTN_ENST00000342992.6_Silent_p.A7279A|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.A8206A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8206	Ig-like 68.						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)			TGTACTGCCCGGCATCGCCTT	0.483000													19	41					5.35267e-07	1.20809e-06	0.000958	1	0
CKAP2L	150468	broad.mit.edu	37	2	113514482	113514482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:113514482C>A	ENST00000302450.6	-	4	544	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	156						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCCTTGATCTGTTAACTGC	0.353000													15	68					0.000219431	0.000460521	0.002450	1	0
GZF1	64412	broad.mit.edu	37	20	23345471	23345471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:23345471G>T	ENST00000338121.5	+	2	528	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.V151L			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	151					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGAGGTGGAGGTGAGCAGTGG	0.493000													19	58					6.94344e-10	1.68478e-09	0.006122	1	0
IDH3B	3420	broad.mit.edu	37	20	2640691	2640691	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2640691G>A	ENST00000380843.4	-	9	930	c.900C>T	c.(898-900)taC>taT	p.Y300Y	IDH3B_ENST00000380851.5_Silent_p.Y300Y|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	300					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAAAGACTGCGTATTCTGCAC	0.532000													28	109					0	0	0.006320	0	0
SNPH	9751	broad.mit.edu	37	20	1285985	1285985	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:1285985C>A	ENST00000381867.1	+	7	1546	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	SNPH_ENST00000381873.3_Missense_Mutation_p.L258M			O15079	SNPH_HUMAN	syntaphilin	258					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACGGACGCGCTGGAAGCCAG	0.682000													23	49					1.85244e-09	4.44146e-09	0.003330	1	0
SMC3	9126	broad.mit.edu	37	10	112328765	112328765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:112328765G>A	ENST00000361804.4	+	2	211	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	29					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAAACATAATGTGATTGGTAA	0.328000													32	28					0	0	0.002096	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501488	220501488	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:220501488C>T	ENST00000358055.3	+	16	2939	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	SLC4A3_ENST00000373760.2_Silent_p.A809A|SLC4A3_ENST00000317151.3_Silent_p.A809A|SLC4A3_ENST00000373762.3_Silent_p.A836A|SLC4A3_ENST00000273063.6_Silent_p.A836A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	809	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGGTGGCCGCCGAAGGCA	0.582000													31	97					0	0	0.002445	0	0
DYSF	8291	broad.mit.edu	37	2	71795363	71795363	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:71795363C>A	ENST00000258104.3	+	26	2982	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	DYSF_ENST00000409366.1_Missense_Mutation_p.P903H|DYSF_ENST00000394120.2_Missense_Mutation_p.P903H|DYSF_ENST00000409582.3_Missense_Mutation_p.P919H|DYSF_ENST00000409651.1_Missense_Mutation_p.P934H|DYSF_ENST00000410041.1_Missense_Mutation_p.P920H|DYSF_ENST00000413539.2_Missense_Mutation_p.P933H|DYSF_ENST00000410020.3_Missense_Mutation_p.P920H|DYSF_ENST00000409744.1_Missense_Mutation_p.P889H|DYSF_ENST00000429174.2_Missense_Mutation_p.P902H|DYSF_ENST00000409762.1_Missense_Mutation_p.P919H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	902						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						CTCACCTACCCCAAGTTTTCT	0.607000													67	227					2.01871e-26	5.86734e-26	0.003610	1	0
SCN8A	6334	broad.mit.edu	37	12	52115638	52115638	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:52115638G>T	ENST00000354534.5	+	12	2122	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	SCN8A_ENST00000545061.1_Silent_p.V648V|SCN8A_ENST00000550891.1_Silent_p.V648V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	648					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAACGGCGTGGTGTCCCTCA	0.647000													18	69					4.35082e-09	1.07539e-08	0.001523	1	0
ACVR1	90	broad.mit.edu	37	2	158594062	158594062	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:158594062T>A	ENST00000263640.3	-	11	1940	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	ACVR1_ENST00000434821.1_Missense_Mutation_p.K504I|ACVR1_ENST00000409283.2_Missense_Mutation_p.K504I|ACVR1_ENST00000410057.2_Missense_Mutation_p.K504I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	504					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGTTTTCAATTTGTCGAGGGA	0.418000													8	46					0	0	0.003080	0	0
FGF10	2255	broad.mit.edu	37	5	44310549	44310549	+	Missense_Mutation	SNP	T	T	C	rs104893887		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:44310549T>C	ENST00000264664.4	-	2	523	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	137					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGTTTCCCCTTCTTGTTCATG	0.388000													9	38					0	0	0.006214	0	0
TGM3	7053	broad.mit.edu	37	20	2312716	2312716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:2312716G>A	ENST00000381458.5	+	10	1465	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	468		Cleavage; by CTSL.			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCCATTTGCCGCGACGTCTTC	0.517000													6	60					0	0	0.001168	0	0
ANO4	121601	broad.mit.edu	37	12	101442142	101442142	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:101442142A>T	ENST00000392979.3	+	13	1531	c.1170A>T	c.(1168-1170)ggA>ggT	p.G390G	ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392977.3_Silent_p.G425G|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	425						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						TTGACAATGGAGCCACTGTCT	0.348000										HNSCC(74;0.22)			13	42					0	0	0.001855	0	0
WDR66	144406	broad.mit.edu	37	12	122396265	122396265	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:122396265G>A	ENST00000288912.4	+	12	2672	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	WDR66_ENST00000397454.2_Silent_p.K606K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	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													40	134					0	0	0.006999	0	0
RNF135	84282	broad.mit.edu	37	17	29326072	29326072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:29326072G>T	ENST00000328381.5	+	5	2035	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	388	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGGAAAGCTTGCCTTCTATTC	0.527000													7	96					2.0095e-06	4.66745e-06	0.001984	1	0
PYDC1	260434	broad.mit.edu	37	16	31228118	31228118	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:31228118T>C	ENST00000302964.3	-	1	562	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	78	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCTCCAACATGCGCATGTCG	0.662000													16	53					0	0	0.004007	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190366	57190366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:57190366G>A	ENST00000504228.1	+	8	3580	c.3475G>A	c.(3475-3477)Gca>Aca	p.A1159T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1152T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1159T			Q6ZU35	K1211_HUMAN	KIAA1211	1159										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCCGAGACTGCAGTGTCCAG	0.547000													19	60					0	0	0.006122	0	0
TEX15	56154	broad.mit.edu	37	8	30703870	30703870	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:30703870T>C	ENST00000256246.2	-	1	2738	c.2664A>G	c.(2662-2664)atA>atG	p.I888M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	888										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCATCATCTATTGTTGTGA	0.328000													15	53					0	0	0.003163	0	0
KCNMA1	3778	broad.mit.edu	37	10	79163662	79163662	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:79163662C>A	ENST00000286627.5	-	2	1450	c.498G>T	c.(496-498)gcG>gcT	p.A166A	KCNMA1_ENST00000372443.1_Silent_p.A166A|KCNMA1_ENST00000354353.5_Silent_p.A166A|KCNMA1_ENST00000404771.3_Silent_p.A166A|KCNMA1_ENST00000286628.8_Silent_p.A166A|KCNMA1_ENST00000372440.1_Silent_p.A166A|KCNMA1_ENST00000404857.1_Silent_p.A166A|KCNMA1_ENST00000406533.3_Silent_p.A166A	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	166					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)	TCATCACCCCCGCCCAGTCCT	0.607000													7	27					0.00198382	0.00423258	0.001984	1	0
DBX2	440097	broad.mit.edu	37	12	45429852	45429852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:45429852G>T	ENST00000332700.6	-	2	620	c.449C>A	c.(448-450)gCg>gAg	p.A150E		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		accgcagcacgccgagtagaa	0.463000													5	27					2.0095e-06	4.66745e-06	0.001984	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899643	112899643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr9:112899643G>C	ENST00000374530.3	+	8	1999	c.1819G>C	c.(1819-1821)Gtc>Ctc	p.V607L	AKAP2_ENST00000374525.1_Missense_Mutation_p.V465L|AKAP2_ENST00000510514.5_Missense_Mutation_p.V607L|AKAP2_ENST00000434623.2_Missense_Mutation_p.V465L|AKAP2_ENST00000259318.7_Missense_Mutation_p.V376L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V607L|AKAP2_ENST00000555236.1_Missense_Mutation_p.V607L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		376							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACCACCTTCTGTCGGGGGACC	0.607000													64	57					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21231924	21231924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:21231924C>T	ENST00000233242.1	-	26	7943	c.7816G>A	c.(7816-7818)Gct>Act	p.A2606T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2606					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTGAAGAGCCTGAAGACTG	0.418000													28	65					0	0	0.005443	0	0
EXPH5	23086	broad.mit.edu	37	11	108383615	108383615	+	Silent	SNP	C	C	A	rs114840330	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:108383615C>A	ENST00000265843.4	-	6	2729	c.2619G>T	c.(2617-2619)tcG>tcT	p.S873S	EXPH5_ENST00000428840.1_Silent_p.S797S|EXPH5_ENST00000443411.1_Silent_p.S685S|EXPH5_ENST00000525344.1_Silent_p.S866S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	873					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413000													34	96					1.36161e-19	3.86085e-19	0.004289	1	0
CHST6	4166	broad.mit.edu	37	16	75513529	75513529	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:75513529G>C	ENST00000332272.4	-	3	377	c.198C>G	c.(196-198)gtC>gtG	p.V66V	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.V66V	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	66			V -> L (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTAGGTAGAAGACGTCGGGGT	0.687000													14	37					0	0	0.001855	0	0
OR51G2	81282	broad.mit.edu	37	11	4935987	4935987	+	Nonsense_Mutation	SNP	G	G	A	rs150667862	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:4935987G>A	ENST00000322013.3	-	1	935	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCGGATCTGTTTGGTCTTC	0.478000													12	19					0	0	0.000978	0	0
CTCF	10664	broad.mit.edu	37	16	67660581	67660581	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:67660581G>T	ENST00000264010.4	+	8	1925	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L	CTCF_ENST00000401394.1_Missense_Mutation_p.R166L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	494					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AATGAGAAGCGCTTTAAGTGT	0.453000													10	38					4.68919e-08	1.1292e-07	0.000673	1	0
THSD7B	80731	broad.mit.edu	37	2	137814036	137814036	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:137814036G>T	ENST00000409968.1	+	3	364	c.186G>T	c.(184-186)caG>caT	p.Q62H	THSD7B_ENST00000272643.3_Missense_Mutation_p.Q62H|THSD7B_ENST00000413152.2_Missense_Mutation_p.Q31H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498000													14	51					8.60227e-14	2.28117e-13	0.004007	1	0
EPPK1	83481	broad.mit.edu	37	8	144940823	144940823	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:144940823A>G	ENST00000525985.1	-	2	6670	c.6599T>C	c.(6598-6600)cTg>cCg	p.L2200P				P58107	EPIPL_HUMAN	epiplakin 1	2200						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)			TCCCGTTTCCAGGTCCTGGAG	0.592000													5	291					0	0	0.001984	0	0
NPLOC4	55666	broad.mit.edu	37	17	79589283	79589283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:79589283G>A	ENST00000374747.5	-	3	247	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	NPLOC4_ENST00000331134.6_Nonsense_Mutation_p.Q40*|NPLOC4_ENST00000539314.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	40					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCATTATTTTGGAAGCCAAAC	0.388000													9	77					0	0	0.004482	0	0
AASS	10157	broad.mit.edu	37	7	121756934	121756934	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:121756934T>A	ENST00000393376.1	-	6	860	c.766_splice	c.e6+1	p.G255_splice	AASS_ENST00000417368.2_Splice_Site_p.G255_splice|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	255	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTCCCTTACCTCCAGTTTGGG	0.328000													31	70					0	0	0.001786	0	0
AKAP9	10142	broad.mit.edu	37	7	91724387	91724387	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:91724387T>G	ENST00000359028.2	+	40	9866	c.9641T>G	c.(9640-9642)tTa>tGa	p.L3214*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.L3160*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.L3210*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3214					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGACACATTAGCAAGTGAA	0.388000			T	BRAF	papillary thyroid								4	45					0	0	0.000248	0	0
THSD7B	80731	broad.mit.edu	37	2	137852609	137852609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:137852609A>G	ENST00000409968.1	+	4	1295	c.1117A>G	c.(1117-1119)Att>Gtt	p.I373V	THSD7B_ENST00000543459.1_Missense_Mutation_p.I232V|THSD7B_ENST00000272643.3_Missense_Mutation_p.I373V|THSD7B_ENST00000413152.2_Missense_Mutation_p.I342V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACATGGCTATTGGAGGTGG	0.537000													12	41					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179581892	179581892	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:179581892G>T	ENST00000589042.1	-	88	25793	c.25569C>A	c.(25567-25569)gcC>gcA	p.A8523A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A8206A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A7279A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8206	Ig-like 68.						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)			TGTACTGCCCGGCATCGCCTT	0.483000													19	41					5.35267e-07	1.2657e-06	0.000958	1	0
CARM1	10498	broad.mit.edu	37	19	11032328	11032328	+	Silent	SNP	G	G	T	rs149968022	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:11032328G>T	ENST00000327064.4	+	16	1912	c.1722G>T	c.(1720-1722)acG>acT	p.T574T	CARM1_ENST00000344150.4_Silent_p.T551T	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTGGCAGCACGAGTGCCCACT	0.677000													19	62					4.63292e-17	1.28583e-16	0.001216	1	0
XIST	7503	broad.mit.edu	37	X	73068472	73068472	+	RNA	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:73068472G>T	ENST00000429829.1	-	0	4116					NR_001564.2																						AACTGTTCAAGAGCTGTTATT	0.423000													9	16					0.00448238	0.00944038	0.004482	1	0
SLC7A9	11136	broad.mit.edu	37	19	33353084	33353084	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:33353084T>C	ENST00000023064.4	-	6	835	c.644A>G	c.(643-645)cAg>cGg	p.Q215R	SLC7A9_ENST00000590341.1_Missense_Mutation_p.Q215R|SLC7A9_ENST00000587772.1_Missense_Mutation_p.Q215R	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	215					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGACAGCTGGGCGCCCTC	0.537000													16	71					0	0	0.003163	0	0
WDR12	55759	broad.mit.edu	37	2	203747437	203747437	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:203747437T>C	ENST00000261015.3	-	12	1940	c.1191A>G	c.(1189-1191)acA>acG	p.T397T		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	397	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTCTTACCCCTGTGTCTGTCC	0.363000													3	103					0	0	0.000248	0	0
ERBB2	2064	broad.mit.edu	37	17	37884229	37884229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:37884229C>T	ENST00000406381.2	+	29	4120	c.3610C>T	c.(3610-3612)Ccc>Tcc	p.P1204S	ERBB2_ENST00000445658.2_Missense_Mutation_p.P958S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P1204S|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.P1219S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P1204S|ERBB2_ENST00000269571.5_Missense_Mutation_p.P1234S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1234					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGGGCTCCACCCAGCACCTT	0.632000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			12	68					0	0	0.000978	0	0
CHD6	84181	broad.mit.edu	37	20	40118659	40118659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:40118659T>C	ENST00000373233.3	-	12	1616	c.1439A>G	c.(1438-1440)aAa>aGa	p.K480R	CHD6_ENST00000309279.7_Missense_Mutation_p.K480R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	480	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATACAGTTTTTTCTGCAGAG	0.378000													51	112					0	0	0.003610	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378976	142378976	+	RNA	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:142378976G>A	ENST00000390398.3	+	0	281																											TCTTTCCTCTGAGTCAACAGT	0.473000													15	94					0	0	0.002450	0	0
NCOA4	8031	broad.mit.edu	37	10	51585571	51585571	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:51585571A>T	ENST00000452682.1	+	9	1970	c.1718A>T	c.(1717-1719)gAc>gTc	p.D573V	NCOA4_ENST00000443446.1_Missense_Mutation_p.D557V|NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000414907.2_Missense_Mutation_p.D391V|NCOA4_ENST00000374087.4_Missense_Mutation_p.D557V|NCOA4_ENST00000344348.6_Missense_Mutation_p.D557V|NCOA4_ENST00000430396.2_Missense_Mutation_p.D457V|NCOA4_ENST00000438493.1_Missense_Mutation_p.D573V	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	557					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCTGGAGAAGACAAGTGGCTG	0.433000			T	RET	papillary thyroid								30	60					0	0	0.001512	0	0
GPR158	57512	broad.mit.edu	37	10	25887011	25887011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:25887011G>T	ENST00000376351.3	+	11	2815	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	819						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAATCCCACAGCACTTATGAC	0.512000													22	135					2.08468e-23	6.01526e-23	0.001882	1	0
OR10G8	219869	broad.mit.edu	37	11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542000													18	95					0	0	0.002299	0	0
CPB2	1361	broad.mit.edu	37	13	46661882	46661882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr13:46661882C>A	ENST00000181383.4	-	2	164	c.148G>T	c.(148-150)Gag>Tag	p.E50*	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.E50*|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	50					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAATTACCTCATATGTTGTA	0.378000													28	37					2.61193e-14	7.01154e-14	0.001786	1	0
CEACAM3	1084	broad.mit.edu	37	19	42312886	42312886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:42312886G>A	ENST00000357396.3	+	3	701	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CEACAM3_ENST00000344550.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	154						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GGGGGCCGTCGCCGGCATCGT	0.607000													7	250					0	0	0.001984	0	0
MPL	4352	broad.mit.edu	37	1	43803901	43803901	+	Splice_Site	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:43803901C>A	ENST00000372470.3	+	2	253	c.212_splice	c.e2+1	p.R71_splice	MPL_ENST00000413998.2_Splice_Site_p.R71_splice	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	71					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.R71W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCTACCCGCGGTAGGTGCT	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						7	36					0.00448238	0.00944038	0.004482	1	0
CCDC27	148870	broad.mit.edu	37	1	3686432	3686432	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:3686432A>T	ENST00000294600.2	+	11	1913	c.1829A>T	c.(1828-1830)gAc>gTc	p.D610V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	610								p.I611fs*17(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTGACAATGACATCCTGGAA	0.577000													14	60					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179411994	179411994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:179411994C>T	ENST00000589042.1	-	340	94482	c.94258G>A	c.(94258-94260)Gtg>Atg	p.V31420M	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29779M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22355M|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22480M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22547M|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28852M|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29779	Fibronectin type-III 129.						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)			TTGGCAGACACATGGTAGACC	0.398000													42	127					0	0	0.001706	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:160206241G>A	ENST00000392783.2	-	28	5336	c.4841C>T	c.(4840-4842)cCa>cTa	p.P1614L	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1580L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1578L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1514L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAAAGCAAATGGATTTAAGCC	0.433000													7	36					0	0	0.003080	0	0
SNX6	58533	broad.mit.edu	37	14	35072621	35072621	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:35072621C>T	ENST00000396526.3	-	5	597	c.101G>A	c.(100-102)cGt>cAt	p.R34H	SNX6_ENST00000355110.5_Missense_Mutation_p.R38H|SNX6_ENST00000362031.4_Missense_Mutation_p.R162H|SNX6_ENST00000396534.3_Missense_Mutation_p.R34H			Q9UNH7	SNX6_HUMAN	sorting nexin 6	150	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TGCTGCCACACGACACAGGAA	0.343000													5	21					0	0	0.001984	0	0
NFATC2	4773	broad.mit.edu	37	20	50140492	50140492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:50140492C>G	ENST00000371564.3	-	2	507	c.288G>C	c.(286-288)aaG>aaC	p.K96N	NFATC2_ENST00000396009.3_Missense_Mutation_p.K96N|NFATC2_ENST00000414705.1_Missense_Mutation_p.K76N	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	96					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGCTCAGAAACTTCTGCGGCC	0.657000													13	57					0	0	0.001855	0	0
ZC3H18	124245	broad.mit.edu	37	16	88688786	88688786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:88688786A>T	ENST00000301011.5	+	9	1857	c.1657A>T	c.(1657-1659)Aat>Tat	p.N553Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.N577Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	553	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCTGCCTCTAATTCCTCCAG	0.622000													4	21					0	0	0.000248	0	0
CPNE6	9362	broad.mit.edu	37	14	24543809	24543809	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:24543809G>C	ENST00000397016.2	+	7	879	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	CPNE6_ENST00000537691.1_Missense_Mutation_p.V245L|CPNE6_ENST00000216775.2_Missense_Mutation_p.V190L			O95741	CPNE6_HUMAN	copine VI (neuronal)	190	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGATCAGCTGGTCTGGAGAAC	0.517000													8	60					0	0	0.004482	0	0
CLIP3	25999	broad.mit.edu	37	19	36515346	36515346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:36515346G>T	ENST00000360535.4	-	7	1097	c.870C>A	c.(868-870)agC>agA	p.S290R	CLIP3_ENST00000593074.1_Missense_Mutation_p.S290R|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	290					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCCAGTGCGCTAAGCATGA	0.622000													22	47					3.8784e-16	1.07188e-15	0.001882	1	0
NAALAD2	10003	broad.mit.edu	37	11	89902135	89902135	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:89902135T>A	ENST00000534061.1	+	12	1547	c.1317T>A	c.(1315-1317)taT>taA	p.Y439*	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.Y406*	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	439	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCATTGCTTATATCAACTCGG	0.284000													16	34					0	0	0.004990	0	0
MAEL	84944	broad.mit.edu	37	1	166961962	166961962	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:166961962G>T	ENST00000367872.4	+	4	609	c.365G>T	c.(364-366)aGc>aTc	p.S122I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S91I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	122					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AACATTTTTAGCCATGGCGAG	0.363000													34	35					3.62531e-18	1.01478e-17	0.004289	1	0
ASXL3	80816	broad.mit.edu	37	18	31226289	31226289	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr18:31226289G>A	ENST00000269197.5	+	4	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATATGGCCGAGGCAAATGCCC	0.383000													17	45					0	0	0.006122	0	0
TKTL1	8277	broad.mit.edu	37	X	153533683	153533683	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:153533683T>A	ENST00000369915.3	+	2	351	c.162T>A	c.(160-162)tcT>tcA	p.S54S	TKTL1_ENST00000369912.2_5'UTR|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	54					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTTCTTCTGAGATCATGT	0.498000													21	43					0	0	0.001216	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010548	24010548	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:24010548G>T	ENST00000496398.1	+	4	1008	c.585G>T	c.(583-585)tgG>tgT	p.W195C	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.W195C																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						AACACCCATGGGAGGTCATGC	0.522000													9	22					8.28177e-16	2.26969e-15	0.000958	1	0
GABRA5	2558	broad.mit.edu	37	15	27185148	27185148	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:27185148C>G	ENST00000335625.5	+	9	1689	c.801C>G	c.(799-801)ccC>ccG	p.P267P	GABRA5_ENST00000400081.3_Silent_p.P267P|GABRA5_ENST00000355395.5_Silent_p.P267P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	267					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTACCTTCCCTGCATAATGA	0.493000													11	16					0	0	0.000673	0	0
EPHA6	285220	broad.mit.edu	37	3	96533514	96533514	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:96533514A>T	ENST00000389672.5	+	1	85	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	EPHA6_ENST00000470610.2_Missense_Mutation_p.Q16L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCGGCGCCGCAGGCAGCGTCC	0.711000													14	24					0	0	0.002450	0	0
FSHB	2488	broad.mit.edu	37	11	30253578	30253578	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:30253578C>T	ENST00000417547.1	+	2	168	c.129C>T	c.(127-129)acC>acT	p.T43T	FSHB_ENST00000533718.1_Silent_p.T43T|FSHB_ENST00000254122.3_Silent_p.T43T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	43					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GCATCAACACCACTTGGTGTG	0.458000													15	51					0	0	0.004990	0	0
INO80D	54891	broad.mit.edu	37	2	206869167	206869167	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:206869167A>G	ENST00000403263.1	-	11	3413	c.3009T>C	c.(3007-3009)ccT>ccC	p.P1003P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAAGCCTGTAGGAGGGGCTA	0.547000													3	11					0	0	0.004672	0	0
RNF11	26994	broad.mit.edu	37	1	51735628	51735628	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:51735628G>C	ENST00000242719.3	+	2	610	c.123_splice	c.e2-1	p.E42_splice	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	42					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						AATATTTTAGGAACAAGTTCC	0.413000													7	33					0	0	0.003080	0	0
DGKK	139189	broad.mit.edu	37	X	50119165	50119165	+	RNA	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:50119165C>A	ENST00000376025.2	-	0	3331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCATTAAGTCTGTAATAAAG	0.478000													13	24					4.7546e-09	1.16639e-08	0.004007	1	0
ZNF792	126375	broad.mit.edu	37	19	35449469	35449469	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:35449469G>C	ENST00000404801.1	-	4	1676	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L	ZNF792_ENST00000605484.1_Missense_Mutation_p.F363L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCTGAAGAATTTCCCAC	0.483000													29	71					0	0	0.001512	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976392	14976392	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:14976392T>A	ENST00000453695.2	-	8	749	c.305A>T	c.(304-306)gAa>gTa	p.E102V	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E222V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E222V	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	222					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GACTCCTAATTCTTCACTAAG	0.438000								Non-homologous end-joining					28	108					0	0	0.005443	0	0
SHPRH	257218	broad.mit.edu	37	6	146263002	146263002	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:146263002T>G	ENST00000367503.3	-	10	2645	c.2247A>C	c.(2245-2247)caA>caC	p.Q749H	SHPRH_ENST00000275233.7_Missense_Mutation_p.Q749H|SHPRH_ENST00000367505.2_Missense_Mutation_p.Q749H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q749H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	749	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCACTCCTTGATATACCT	0.343000													3	30					0	0	0.004672	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261971	21261971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:21261971C>T	ENST00000311620.5	+	2	1157	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	362	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAATTCCTGCCTATCTTCAA	0.522000													17	40					0	0	0.004990	0	0
PAGE3	139793	broad.mit.edu	37	X	55290291	55290291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:55290291C>G	ENST00000374951.1	-	2	354	c.46G>C	c.(46-48)Gat>Cat	p.D16H	PAGE3_ENST00000519203.1_Missense_Mutation_p.D16H					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						TCTTGATCATCTCTTCTTTCT	0.338000													11	25					0	0	0.000978	0	0
CCT6P3	643180	broad.mit.edu	37	7	64498812	64498812	+	RNA	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:64498812A>T	ENST00000426828.1	+	0	75					NR_033416.1																						CCCGGTATGCAGTGTGCGCTG	0.726000													6	26					0	0	0.001168	0	0
ITGAM	3684	broad.mit.edu	37	16	31340609	31340609	+	Missense_Mutation	SNP	G	G	T	rs61758333		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:31340609G>T	ENST00000544665.3	+	24	2927	c.2856G>T	c.(2854-2856)atG>atT	p.M952I	ITGAM_ENST00000287497.8_Missense_Mutation_p.M951I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	951					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCGGGTCATGCAGCATCAAT	0.502000													7	16					1.06961e-07	2.56629e-07	0.003080	1	0
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:233246046C>T	ENST00000392027.2	+	10	1547	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697000													10	33					0	0	0.000673	0	0
HECTD4	283450	broad.mit.edu	37	12	112605241	112605241	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:112605241C>G	ENST00000550722.1	-	72	12371	c.11976G>C	c.(11974-11976)ccG>ccC	p.P3992P	HECTD4_ENST00000377560.5_Silent_p.P3966P|HECTD4_ENST00000430131.2_Silent_p.P3716P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCAGGGGCAGCGGGACGTCTG	0.622000													17	57					0	0	0.004007	0	0
MKRN3	7681	broad.mit.edu	37	15	23811310	23811310	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:23811310C>G	ENST00000314520.3	+	1	857	c.381C>G	c.(379-381)gcC>gcG	p.A127A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127						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)		GGAAGATGGCCACTGAGGGTG	0.607000													23	34					0	0	0.002299	0	0
CLDN12	9069	broad.mit.edu	37	7	90042423	90042423	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:90042423A>T	ENST00000535571.1	+	2	742	c.433A>T	c.(433-435)Act>Tct	p.T145S	CLDN12_ENST00000394605.2_Missense_Mutation_p.T145S|CLDN12_ENST00000287916.4_Missense_Mutation_p.T145S	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	145					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCTGGCAGGTACTGTGAGCCT	0.488000													10	110					0	0	0.000673	0	0
CRYGN	155051	broad.mit.edu	37	7	151127188	151127188	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:151127188C>G	ENST00000337323.2	-	4	621	c.495G>C	c.(493-495)gaG>gaC	p.E165D	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	165										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTGGTGGCCTCTTCCGGTC	0.532000													18	63					0	0	0.004990	0	0
DNASE2	1777	broad.mit.edu	37	19	12991695	12991695	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:12991695C>G	ENST00000222219.3	-	3	360		c.e3-1		DNASE2_ENST00000538460.1_Splice_Site	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGAAGGCGAGCTGCGGGCGGA	0.632000													14	72					0	0	0.002450	0	0
COX7A2L	9167	broad.mit.edu	37	2	42580403	42580403	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:42580403C>A	ENST00000378669.1	-	3	982	c.153G>T	c.(151-153)gtG>gtT	p.V51V	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000463055.1_Silent_p.V51V|COX7A2L_ENST00000234301.2_Silent_p.V51V			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	51					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						CATAATCATACACTGTGGAAT	0.403000													16	57					2.23348e-06	5.16937e-06	0.004007	1	0
DUSP27	92235	broad.mit.edu	37	1	167097477	167097477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:167097477C>T	ENST00000361200.2	+	6	3275	c.3109C>T	c.(3109-3111)Cca>Tca	p.P1037S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P1037S|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1037S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1037					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGGAGAGCCCAGAGCCCTA	0.587000													19	23					0	0	0.006122	0	0
ZW10	9183	broad.mit.edu	37	11	113630936	113630936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:113630936G>C	ENST00000200135.3	-	5	719	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	192	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGCACCTTTTGATGGTGGGAA	0.423000													15	35					0	0	0.004007	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24200851	24200851	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr13:24200851A>G	ENST00000382263.3	+	5	549	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.Y122C|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.Y122C	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	122					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTAGATTTTATAGGAAGACG	0.443000													14	33					0	0	0.001855	0	0
COL19A1	1310	broad.mit.edu	37	6	70861308	70861308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:70861308G>C	ENST00000322773.4	+	31	2159	c.2057G>C	c.(2056-2058)gGa>gCa	p.G686A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G308A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	686	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCTCTTGGGAGACATCGGT	0.308000													16	64					0	0	0.001882	0	0
RHOB	388	broad.mit.edu	37	2	20647664	20647664	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:20647664C>A	ENST00000272233.4	+	1	830	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	146					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGGCCGCGCCATGGCCGTGC	0.662000													44	94					9.39024e-22	2.67418e-21	0.002222	1	0
GALC	2581	broad.mit.edu	37	14	88401201	88401201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:88401201G>C	ENST00000261304.2	-	17	2039	c.1933C>G	c.(1933-1935)Ctg>Gtg	p.L645V	GALC_ENST00000544807.2_Intron|GALC_ENST00000393568.4_Missense_Mutation_p.L622V|GALC_ENST00000393569.2_Missense_Mutation_p.L619V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	645			L -> R (in GLD; adult).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTCATTCAGCATGCCAGAG	0.428000													10	30					0	0	0.006214	0	0
ILDR2	387597	broad.mit.edu	37	1	166904662	166904662	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:166904662A>T	ENST00000271417.3	-	6	811	c.756T>A	c.(754-756)ggT>ggA	p.G252G	ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.G233G|ILDR2_ENST00000469934.2_Silent_p.G252G|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	252						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCCGGGGACACCGGAGACAG	0.602000													15	39					0	0	0.003163	0	0
OLR1	4973	broad.mit.edu	37	12	10319426	10319426	+	Silent	SNP	C	C	T	rs146929021		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:10319426C>T	ENST00000309539.3	-	3	369	c.309G>A	c.(307-309)aaG>aaA	p.K103K	OLR1_ENST00000544577.1_Silent_p.K103K|OLR1_ENST00000432556.2_Silent_p.K103K|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000545927.1_Silent_p.K103K	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	103	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTATCATTTCCTTGAGTTCGT	0.448000													36	132					0	0	0.004878	0	0
FUT9	10690	broad.mit.edu	37	6	96652001	96652001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:96652001G>C	ENST00000302103.5	+	3	1296	c.970G>C	c.(970-972)Gta>Cta	p.V324L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	324					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTCACTGTAAATCTTCC	0.363000													15	29					0	0	0.000958	0	0
GALNS	2588	broad.mit.edu	37	16	88884501	88884501	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:88884501T>A	ENST00000268695.5	-	13	1484	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	GALNS_ENST00000542788.1_Missense_Mutation_p.S391C	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	466						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGATCCTGCTGAGGGCCTCC	0.667000													3	14					0	0	0.004672	0	0
LRRK2	120892	broad.mit.edu	37	12	40714839	40714839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:40714839G>T	ENST00000298910.7	+	35	5077	c.5019G>T	c.(5017-5019)ttG>ttT	p.L1673F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1673					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTTAGTTTGTCTGACCACA	0.388000													27	118					1.75199e-13	4.62722e-13	0.007291	1	0
TBC1D17	79735	broad.mit.edu	37	19	50390975	50390975	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:50390975G>T	ENST00000221543.5	+	15	1842	c.1542_splice	c.e15-1	p.V515_splice	TBC1D17_ENST00000535102.2_Splice_Site_p.V482_splice	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	515	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCACCCTCAGGTGCTGTGGAC	0.682000													8	23					0.000157383	0.000349444	0.003080	1	0
USH2A	7399	broad.mit.edu	37	1	216591996	216591996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:216591996C>T	ENST00000366943.2	-	3	897	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	USH2A_ENST00000307340.3_Missense_Mutation_p.G171R|USH2A_ENST00000366942.3_Missense_Mutation_p.G171R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	171					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAATCTGCCCATCTACTGTC	0.388000										HNSCC(13;0.011)			7	57					0	0	0.001984	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457428	21457428	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:21457428G>T	ENST00000307378.6	-	7	1242	c.522C>A	c.(520-522)ccC>ccA	p.P174P	SLCO1A2_ENST00000537524.1_Silent_p.P42P|SLCO1A2_ENST00000390670.3_Silent_p.P172P|SLCO1A2_ENST00000458504.1_Silent_p.P42P|SLCO1A2_ENST00000452078.1_Silent_p.P174P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	174					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAGGCAGGATGGGAGTTTCAC	0.343000													20	36					2.39187e-15	6.50073e-15	0.001216	1	0
PAPPA2	60676	broad.mit.edu	37	1	176640251	176640251	+	Splice_Site	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:176640251G>A	ENST00000367662.3	+	4	3301	c.2137_splice	c.e4+1	p.G713_splice	PAPPA2_ENST00000367661.3_Splice_Site_p.G713_splice	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	713	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTCACCTGGGTAAGTGAAA	0.468000													27	71					0	0	0.003954	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766814	27766814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:27766814C>G	ENST00000451261.2	+	5	2201	c.1802C>G	c.(1801-1803)gCt>gGt	p.A601G		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGTGGTGAAGCTGAATTTCCA	0.537000													5	11					0	0	0.000602	0	0
TTC7B	145567	broad.mit.edu	37	14	91084371	91084371	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:91084371C>T	ENST00000357056.2	-	16	1891	c.1770G>A	c.(1768-1770)gtG>gtA	p.V590V	TTC7B_ENST00000328459.6_Silent_p.V590V|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	590							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACTGCAACTTCACTTTGGAAA	0.542000													19	38					0	0	0.002299	0	0
MDH1B	130752	broad.mit.edu	37	2	207620218	207620218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:207620218G>A	ENST00000374412.3	-	5	700	c.425C>T	c.(424-426)cCt>cTt	p.P142L	MDH1B_ENST00000449792.1_Missense_Mutation_p.P44L|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P142L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	142					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAGCAGGCAGGAGCAGAGGC	0.398000													21	51					0	0	0.002299	0	0
SHPRH	257218	broad.mit.edu	37	6	146262922	146262922	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:146262922C>A	ENST00000367503.3	-	10	2725	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SHPRH_ENST00000275233.7_Missense_Mutation_p.R776L|SHPRH_ENST00000367505.2_Missense_Mutation_p.R776L|SHPRH_ENST00000438092.2_Missense_Mutation_p.R776L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	776	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R776H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATTCTGAACGCAGTACATC	0.418000													6	50					8.12818e-05	0.000181705	0.001984	1	0
LAMA2	3908	broad.mit.edu	37	6	129802530	129802530	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:129802530G>A	ENST00000421865.2	+	55	7744	c.7695G>A	c.(7693-7695)ttG>ttA	p.L2565L	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2565	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCATTCTTTTGGGAAGTGGAG	0.478000													13	66					0	0	0.002450	0	0
MATK	4145	broad.mit.edu	37	19	3784203	3784203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:3784203C>A	ENST00000310132.6	-	5	679	c.281G>T	c.(280-282)aGt>aTt	p.S94I	MATK_ENST00000395040.2_Missense_Mutation_p.S53I|MATK_ENST00000395045.2_Missense_Mutation_p.S95I|MATK_ENST00000585778.1_Missense_Mutation_p.S94I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	94	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGTCCACTGGTGTGGTG	0.692000													23	57					4.26978e-12	1.11868e-11	0.003330	1	0
CATSPER2	117155	broad.mit.edu	37	15	43928002	43928002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:43928002C>A	ENST00000396879.1	-	10	1156	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	CATSPER2_ENST00000355438.2_Missense_Mutation_p.R348S|CATSPER2_ENST00000381761.1_Missense_Mutation_p.R354S|CATSPER2_ENST00000321596.5_Missense_Mutation_p.R348S|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.R348S			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	348					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGCTCTTTCCTGATATTCT	0.512000													13	20					0.00244969	0.00520958	0.002450	1	0
C6orf222	389384	broad.mit.edu	37	6	36294357	36294357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:36294357C>T	ENST00000437635.2	-	5	1143	c.966G>A	c.(964-966)tgG>tgA	p.W322*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	322										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCTTGGGTGGCCAGGCCTCTG	0.572000													16	100					0	0	0.004007	0	0
GALNT11	63917	broad.mit.edu	37	7	151797963	151797963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:151797963C>T	ENST00000434507.1	+	5	813	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	GALNT11_ENST00000415421.1_Missense_Mutation_p.R126C|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Missense_Mutation_p.R45C|GALNT11_ENST00000430044.2_Missense_Mutation_p.R126C|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000320311.2_Missense_Mutation_p.R126C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	126						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TATCAGTGACCGCTTGGGCTA	0.408000													20	79					0	0	0.001216	0	0
UPK3A	7380	broad.mit.edu	37	22	45689060	45689060	+	Splice_Site	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr22:45689060A>T	ENST00000216211.4	+	5	603		c.e5-1		UPK3A_ENST00000396082.2_Splice_Site	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A						epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCACCACAGTCACCCCAT	0.657000													11	34					0	0	0.001368	0	0
ZNF44	51710	broad.mit.edu	37	19	12384496	12384496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:12384496C>A	ENST00000356109.5	-	5	836	c.718G>T	c.(718-720)Ggt>Tgt	p.G240C	ZNF44_ENST00000355684.5_Missense_Mutation_p.G192C	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCATCTCCACCTTTTACTACC	0.403000													28	60					4.87955e-14	1.29923e-13	0.005443	1	0
PCDHA1	56147	broad.mit.edu	37	5	140168241	140168241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:140168241C>G	ENST00000504120.2	+	1	2366	c.2366C>G	c.(2365-2367)cCa>cGa	p.P789R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P789R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAACAACCAGAAGCAAAT	0.413000													5	13					0	0	0.000602	0	0
CEP170	9859	broad.mit.edu	37	1	243362455	243362455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:243362455G>C	ENST00000366542.1	-	7	589	c.538C>G	c.(538-540)Ccg>Gcg	p.P180A	CEP170_ENST00000366543.1_Missense_Mutation_p.P180A|CEP170_ENST00000366544.1_Missense_Mutation_p.P180A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	180						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACCATGACGGCTGCCCATAT	0.418000													12	16					0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38854730	38854730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:38854730C>A	ENST00000359357.3	+	55	8026	c.7772C>A	c.(7771-7773)aCt>aAt	p.T2591N	DNAH8_ENST00000449981.2_Missense_Mutation_p.T2808N|DNAH8_ENST00000441566.1_Missense_Mutation_p.T2555N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACAATTTACTGTGTTTAAT	0.338000													12	25					4.36969e-10	1.11368e-09	0.001855	1	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	94					0	0	0.000248	0	0
CNOT1	23019	broad.mit.edu	37	16	58568212	58568212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:58568212G>A	ENST00000317147.5	-	40	6066	c.5734C>T	c.(5734-5736)Cgt>Tgt	p.R1912C	CNOT1_ENST00000245138.4_Missense_Mutation_p.R763C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1907C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1912					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCTGAGCACGGTAACTGATT	0.478000													9	37					0	0	0.006214	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	101					0	0	0.004672	0	0
CMIP	80790	broad.mit.edu	37	16	81712034	81712034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:81712034G>C	ENST00000537098.3	+	10	1261	c.1189G>C	c.(1189-1191)Gtg>Ctg	p.V397L	CMIP_ENST00000539778.2_Missense_Mutation_p.V303L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V244L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	363						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GTCGGTGGTCGTGGCCTCCAG	0.662000													6	7					0	0	0.001168	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240963	134240963	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:134240963A>T	ENST00000535456.2	+	13	1465	c.1277A>T	c.(1276-1278)cAg>cTg	p.Q426L	GLB1L2_ENST00000339772.7_Missense_Mutation_p.Q426L|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.Q426L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	426					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGAAATGGACAGTCCTTCGGG	0.537000													26	105					0	0	0.003954	0	0
HSPH1	10808	broad.mit.edu	37	13	31711555	31711555	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr13:31711555T>C	ENST00000320027.5	-	18	2821	c.2477A>G	c.(2476-2478)gAa>gGa	p.E826G	HSPH1_ENST00000380406.5_Missense_Mutation_p.E785G|HSPH1_ENST00000429785.2_Missense_Mutation_p.E645G|HSPH1_ENST00000380405.4_Missense_Mutation_p.E782G|HSPH1_ENST00000445273.2_Missense_Mutation_p.E828G	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	826					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTCTAAATCTTCTTCCTTTTT	0.363000													19	47					0	0	0.006122	0	0
KIF2B	84643	broad.mit.edu	37	17	51901021	51901021	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:51901021G>C	ENST00000268919.4	+	1	783	c.627G>C	c.(625-627)ccG>ccC	p.P209P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCCCCCGCAAGAACATC	0.537000													10	58					0	0	0.000673	0	0
WDR11	55717	broad.mit.edu	37	10	122624702	122624702	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:122624702G>T	ENST00000263461.6	+	6	1103	c.857G>T	c.(856-858)cGc>cTc	p.R286L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	286						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCAATAGAACGCACAGGAGTT	0.358000													20	47					2.4624e-09	6.15599e-09	0.001216	1	0
ABCA10	10349	broad.mit.edu	37	17	67218001	67218001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:67218001A>G	ENST00000269081.4	-	6	1144	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	ABCA10_ENST00000423818.2_Intron|ABCA10_ENST00000432313.2_Missense_Mutation_p.Y79H|ABCA10_ENST00000416101.2_Missense_Mutation_p.Y79H	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	79					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTGCCAAGTAACAAAAAATT	0.338000													7	14					0	0	0.004482	0	0
CARM1	10498	broad.mit.edu	37	19	11032327	11032327	+	Missense_Mutation	SNP	C	C	T	rs139191688		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:11032327C>T	ENST00000327064.4	+	16	1911	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	CARM1_ENST00000344150.4_Missense_Mutation_p.T551M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGTGGCAGCACGAGTGCCCAC	0.677000													19	62					0	0	0.001216	0	0
SCAND3	114821	broad.mit.edu	37	6	28543800	28543800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:28543800T>A	ENST00000452236.2	-	3	1299	c.682A>T	c.(682-684)Aga>Tga	p.R228*	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	228					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCTAAGCTTCTGAAGAACTTT	0.348000													8	50					0	0	0.003080	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145039590	145039590	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:145039590C>G	ENST00000313382.9	-	1	412	c.20_splice	c.e1+1	p.R7_splice	PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000493130.2_Splice_Site_p.R7_splice|PDE4DIP_ENST00000478649.2_Splice_Site_p.R7_splice	NM_001198832.1	NP_001185761.1	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCCACCTACCTCGTCCAGGT	0.627000			T	PDGFRB	MPD								3	53					0	0	0.004672	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:88669548G>A	ENST00000394480.1	-	13	1671	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_ENST00000355254.2_Silent_p.F450F|NTRK3_ENST00000360948.2_Silent_p.F450F|NTRK3_ENST00000357724.2_Silent_p.F442F|NTRK3_ENST00000317501.3_Silent_p.F450F|NTRK3_ENST00000540489.2_Silent_p.F450F|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000558676.1_Silent_p.F442F|NTRK3_ENST00000557856.1_Silent_p.F442F|NTRK3_ENST00000542733.2_Silent_p.F352F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450					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)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	27					0	0	0.001368	0	0
TKTL2	84076	broad.mit.edu	37	4	164393884	164393884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:164393884C>A	ENST00000280605.3	-	1	1163	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	335						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ctttcatttgcacggcccagt	0.418000													32	105					1.62565e-12	4.2763e-12	0.002445	1	0
KIAA1429	25962	broad.mit.edu	37	8	95500951	95500951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:95500951G>A	ENST00000297591.5	-	24	5497	c.5422C>T	c.(5422-5424)Cgc>Tgc	p.R1808C	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1808					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAAGGAGCGTACATGACGA	0.438000													28	77					0	0	0.007291	0	0
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	G	C	rs140423684		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:2321165G>C	ENST00000381458.5	+	13	2083	c.2020G>C	c.(2020-2022)Gac>Cac	p.D674H		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602000													29	72					0	0	0.001786	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810615	169810615	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:169810615C>A	ENST00000521859.1	-	3	773	c.374G>T	c.(373-375)tGt>tTt	p.C125F	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000274629.4_Intron|KCNIP1_ENST00000518527.1_Intron			Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	0					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		gGGACAGGGACAGTTAGGAAC	0.557000													3	11					6.4e-05	0.000144055	0.004672	1	0
EPHA6	285220	broad.mit.edu	37	3	97439201	97439201	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:97439201T>A	ENST00000389672.5	+	15	2919	c.2881T>A	c.(2881-2883)Tgg>Agg	p.W961R		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	866	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATTGTCATGTGGGAGGTCAT	0.463000													16	60					0	0	0.004007	0	0
CPO	130749	broad.mit.edu	37	2	207834010	207834010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:207834010G>T	ENST00000272852.3	+	9	1021	c.975G>T	c.(973-975)caG>caT	p.Q325H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	325					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAGAAGCTCAGATCCAGCCCA	0.527000													12	48					1.08611e-07	2.59635e-07	0.000978	1	0
HID1	283987	broad.mit.edu	37	17	72959062	72959062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:72959062C>T	ENST00000425042.2	-	4	579	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		ACACTCACCACAGTGCTCCTC	0.667000													11	53					0	0	0.001368	0	0
MAVS	57506	broad.mit.edu	37	20	3841990	3841990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:3841990C>T	ENST00000428216.2	+	4	432	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	102					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTCGGACCGTCCCCCAGA	0.597000													22	64					0	0	0.002780	0	0
NUTM1	256646	broad.mit.edu	37	15	34646693	34646693	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:34646693G>C	ENST00000537011.1	+	6	1504	c.1122G>C	c.(1120-1122)cgG>cgC	p.R374R	NUTM1_ENST00000333756.4_Silent_p.R346R|NUTM1_ENST00000438749.3_Silent_p.R364R					NUT midline carcinoma, family member 1																		CCCCCCGCCGGCGTCAGCGTA	0.557000													23	62					0	0	0.005443	0	0
ABCG8	64241	broad.mit.edu	37	2	44104829	44104829	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:44104829T>A	ENST00000272286.2	+	12	1974		c.e12+2			NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGATAAAGTAAGCGGGGAA	0.507000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	81					0	0	0.001882	0	0
LSG1	55341	broad.mit.edu	37	3	194365325	194365325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:194365325C>T	ENST00000265245.5	-	13	2088	c.1774G>A	c.(1774-1776)Gtt>Att	p.V592I	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	592					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTTTGTCAACGATATTTTCA	0.328000													9	42					0	0	0.006214	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676237	9676237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:9676237C>A	ENST00000330255.4	-	5	589	c.577G>T	c.(577-579)Gct>Tct	p.A193S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.A192S	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	193						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTGGAGGCAGCGTCTGCGAGA	0.617000													7	23					2.0095e-06	4.66745e-06	0.001984	1	0
IQUB	154865	broad.mit.edu	37	7	123143292	123143292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:123143292C>G	ENST00000466202.1	-	4	1234	c.658G>C	c.(658-660)Gat>Cat	p.D220H	IQUB_ENST00000434450.1_Missense_Mutation_p.D220H|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000324698.6_Missense_Mutation_p.D220H			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	220										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGAGACATCAGTTAATCCA	0.358000													25	84					0	0	0.002780	0	0
CHFR	55743	broad.mit.edu	37	12	133435715	133435715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:133435715C>T	ENST00000266880.7	-	8	949	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CHFR_ENST00000450056.2_Missense_Mutation_p.D284N|CHFR_ENST00000315585.7_Missense_Mutation_p.D255N|CHFR_ENST00000443047.2_Missense_Mutation_p.D204N|CHFR_ENST00000432561.2_Missense_Mutation_p.D296N|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	296					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCATCTTGTCTGGCTTCCCA	0.597000													13	42					0	0	0.001368	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136707	40136707	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:40136707G>T	ENST00000278198.2	-	2	3099	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T379K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCAGGGATGTGGAGGCCCG	0.498000													21	80					2.70639e-06	6.24186e-06	0.002299	1	0
NDNF	79625	broad.mit.edu	37	4	121957963	121957963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:121957963T>A	ENST00000379692.4	-	4	1689	c.1163A>T	c.(1162-1164)cAa>cTa	p.Q388L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	388										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCTTCTCACTTGGATTTGGAC	0.428000													29	71					0	0	0.007291	0	0
FSTL5	56884	broad.mit.edu	37	4	162380450	162380450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:162380450G>C	ENST00000306100.5	-	14	2066	c.1630C>G	c.(1630-1632)Cca>Gca	p.P544A	FSTL5_ENST00000536695.1_Missense_Mutation_p.P543A|FSTL5_ENST00000379164.4_Missense_Mutation_p.P543A|FSTL5_ENST00000427802.2_Missense_Mutation_p.P534A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	544						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTTAACTGGGACAGGGTCT	0.378000													10	56					0	0	0.000978	0	0
FAT1	2195	broad.mit.edu	37	4	187629394	187629394	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:187629394T>A	ENST00000441802.2	-	2	1797	c.1588A>T	c.(1588-1590)Atg>Ttg	p.M530L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	530	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCCGAGGCATCAGTTCGTAG	0.473000										HNSCC(5;0.00058)			24	65					0	0	0.004656	0	0
SFRP4	6424	broad.mit.edu	37	7	37953821	37953821	+	Missense_Mutation	SNP	T	T	C	rs112054297		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:37953821T>C	ENST00000436072.2	-	3	963	c.586A>G	c.(586-588)Agc>Ggc	p.S196G	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	196	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTACCATAGCTGTAGTTTTTG	0.398000													16	32					0	0	0.006122	0	0
PHF3	23469	broad.mit.edu	37	6	64422632	64422632	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:64422632A>T	ENST00000262043.3	+	16	5488	c.5148A>T	c.(5146-5148)ttA>ttT	p.L1716F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1716F			Q92576	PHF3_HUMAN	PHD finger protein 3	1716					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTGACAATTTAAAAGTTGCAC	0.373000													9	27					0	0	0.004482	0	0
LRRK2	120892	broad.mit.edu	37	12	40728910	40728910	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:40728910A>T	ENST00000298910.7	+	40	5957	c.5899A>T	c.(5899-5901)Act>Tct	p.T1967S		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1967	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCCAGCCTCACTAGAACCCT	0.507000													24	58					0	0	0.003954	0	0
OPTC	26254	broad.mit.edu	37	1	203472812	203472812	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:203472812C>T	ENST00000367222.2	+	7	1079	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	321						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCGCCTACTTCTGCCTGCCTC	0.632000													31	62					0	0	0.002096	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392880	89392880	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:89392880T>A	ENST00000532352.1	+	0	703							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CACACCAGGTTACCCAGCAAA	0.433000													10	42					0	0	0.000978	0	0
ERMN	57471	broad.mit.edu	37	2	158178042	158178042	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:158178042T>C	ENST00000410096.1	-	3	887	c.596A>G	c.(595-597)gAt>gGt	p.D199G	ERMN_ENST00000420719.2_Missense_Mutation_p.D179G|ERMN_ENST00000397283.2_Missense_Mutation_p.D212G|ERMN_ENST00000535935.1_Missense_Mutation_p.D93G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	199						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCGAACTtcatcttcatcatt	0.383000													6	110					0	0	0.001168	0	0
WDR77	79084	broad.mit.edu	37	1	111991351	111991351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:111991351G>A	ENST00000235090.5	-	2	397	c.191C>T	c.(190-192)cCc>cTc	p.P64L	WDR77_ENST00000411751.2_Missense_Mutation_p.P64L	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	64					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGCACAGGGGTCCTTAAA	0.652000													3	11					0	0	0.004672	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177112	89177112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:89177112G>T	ENST00000561129.2	+	1	158	c.28G>T	c.(28-30)Gag>Tag	p.E10*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.E10*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGCCCGGCTGAGACCCAAAG	0.522000													26	47					4.87955e-14	1.29923e-13	0.005443	1	0
TNR	7143	broad.mit.edu	37	1	175325503	175325503	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:175325503T>C	ENST00000367674.1	-	16	3778	c.3070A>G	c.(3070-3072)Acc>Gcc	p.T1024A	TNR_ENST00000263525.2_Missense_Mutation_p.T1024A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1024	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCCATTGGTGGCATACATG	0.507000													11	75					0	0	0.001368	0	0
TMEM61	199964	broad.mit.edu	37	1	55451924	55451924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:55451924C>T	ENST00000371268.3	+	2	444	c.170C>T	c.(169-171)cCg>cTg	p.P57L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	57						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ACGGAGTATCCGGTGCCTGAG	0.682000													27	79					0	0	0.005443	0	0
MAP4K3	8491	broad.mit.edu	37	2	39505576	39505576	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:39505576T>C	ENST00000263881.3	-	24	2090	c.1766A>G	c.(1765-1767)aAt>aGt	p.N589S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.N505S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N568S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N142S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	589	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATGAAGTTCATTAAGATTGAG	0.264000													3	22					0	0	0.000248	0	0
ATR	545	broad.mit.edu	37	3	142184024	142184024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:142184024C>T	ENST00000350721.4	-	41	7077	c.6956G>A	c.(6955-6957)gGa>gAa	p.G2319E	ATR_ENST00000383101.3_Missense_Mutation_p.G2255E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2319					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGAACTTTCCATCTGAGCC	0.333000								Other conserved DNA damage response genes					8	24					0	0	0.006214	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890361	5890361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr18:5890361G>T	ENST00000581347.1	-	3	2347	c.1702C>A	c.(1702-1704)Ctg>Atg	p.L568M	TMEM200C_ENST00000383490.2_Missense_Mutation_p.L568M|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	568						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCGCACCCAGAACGGGGGCG	0.652000													14	47					7.93312e-07	1.86913e-06	0.002450	1	0
SLC16A7	9194	broad.mit.edu	37	12	60169129	60169129	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:60169129T>C	ENST00000261187.4	+	4	1217	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	SLC16A7_ENST00000543448.1_Silent_p.F252F|SLC16A7_ENST00000547379.1_Silent_p.F351F|SLC16A7_ENST00000552432.1_Silent_p.F351F|SLC16A7_ENST00000552024.1_Silent_p.F351F	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	351						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCCTTGGATTTGGGAGTGTTA	0.478000													4	169					0	0	0.000602	0	0
OR56A3	390083	broad.mit.edu	37	11	5968729	5968729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:5968729G>T	ENST00000329564.6	+	1	160	c.153G>T	c.(151-153)atG>atT	p.M51I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	51			M -> T (in dbSNP:rs1840178).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTCCTGATGACCATCTGGC	0.607000													26	105					1.5548e-18	4.38963e-18	0.005443	1	0
TRAV12-3	28672	broad.mit.edu	37	14	22434099	22434099	+	RNA	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:22434099C>G	ENST00000390442.3	+	0	208																											AGCAACAGTGCTTTTCAATAC	0.473000													37	108					0	0	0.003271	0	0
ALMS1	7840	broad.mit.edu	37	2	73777441	73777441	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:73777441A>C	ENST00000264448.6	+	13	10063	c.9952A>C	c.(9952-9954)Aca>Cca	p.T3318P	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3276P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3318					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTGCTAGGCACAAGAGATGA	0.438000													16	60					0	0	0.004007	0	0
DCDC1	341019	broad.mit.edu	37	11	31086673	31086673	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:31086673G>C	ENST00000597505.1	-	17	2325	c.2326C>G	c.(2326-2328)Cta>Gta	p.L776V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCTCCTCTAGGTAGGTCAGA	0.423000													7	30					0	0	0.001984	0	0
SHANK1	50944	broad.mit.edu	37	19	51172432	51172432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:51172432G>T	ENST00000293441.1	-	22	2803	c.2785C>A	c.(2785-2787)Ccg>Acg	p.P929T	SHANK1_ENST00000391813.1_Missense_Mutation_p.P316T|SHANK1_ENST00000391814.1_Missense_Mutation_p.P937T|SHANK1_ENST00000359082.3_Missense_Mutation_p.P920T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGGCTCCGGTGGGGACGTG	0.667000											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					3.59834e-05	8.1554e-05	0.001168	1	0
KIAA1614	57710	broad.mit.edu	37	1	180885313	180885313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:180885313C>G	ENST00000367588.4	+	2	129	c.74C>G	c.(73-75)aCa>aGa	p.T25R		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGAGTGGAACAGCCAGCCCC	0.617000													3	41					0	0	0.000248	0	0
TUFT1	7286	broad.mit.edu	37	1	151553494	151553494	+	Missense_Mutation	SNP	G	G	A	rs150712835		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:151553494G>A	ENST00000368849.3	+	12	1147	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	TUFT1_ENST00000392712.3_Missense_Mutation_p.R307Q|TUFT1_ENST00000353024.3_Missense_Mutation_p.R303Q|TUFT1_ENST00000538902.1_Missense_Mutation_p.R381Q|TUFT1_ENST00000368848.2_Missense_Mutation_p.R337Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	362					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGCCCGGGCCAAGACA	0.522000													16	48					0	0	0.004990	0	0
IGF1R	3480	broad.mit.edu	37	15	99251053	99251053	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:99251053C>A	ENST00000268035.6	+	2	968	c.357C>A	c.(355-357)atC>atA	p.I119I	IGF1R_ENST00000558762.1_Silent_p.I119I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	119					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCTGGTCATCTTCGAGATGA	0.532000													32	28					2.81731e-10	7.23663e-10	0.002096	1	0
PEG3	5178	broad.mit.edu	37	19	57328850	57328850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:57328850C>G	ENST00000326441.9	-	10	1323	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K194N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K320N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K196N|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	320					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGACACATCCTTGATGAATT	0.463000													37	92					0	0	0.006999	0	0
LCMT2	9836	broad.mit.edu	37	15	43621835	43621835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:43621835G>A	ENST00000305641.5	-	1	968	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	LCMT2_ENST00000567039.1_Missense_Mutation_p.P34L|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	285					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCCACCCGCCGGCGTTCTTCT	0.557000													14	34					0	0	0.001855	0	0
C1orf63	57035	broad.mit.edu	37	1	25573429	25573429	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:25573429C>A	ENST00000243189.7	-	2	302	c.26G>T	c.(25-27)tGg>tTg	p.W9L	C1orf63_ENST00000417642.2_Missense_Mutation_p.W2L|C1orf63_ENST00000431849.2_Missense_Mutation_p.W9L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	9										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGCCCGGCCACATGTCGTT	0.607000													22	89					8.24728e-16	2.26969e-15	0.004656	1	0
APBB1IP	54518	broad.mit.edu	37	10	26802519	26802519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:26802519C>G	ENST00000376236.4	+	8	1198	c.743C>G	c.(742-744)aCa>aGa	p.T248R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	248	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCAGACTGGACAAGAGACACA	0.343000													13	62					0	0	0.001368	0	0
ITM2A	9452	broad.mit.edu	37	X	78616913	78616913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:78616913G>A	ENST00000434584.2	-	4	820	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.R206C	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	206	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTAACATCACGAATTTCCTCC	0.398000													22	41					0	0	0.002299	0	0
OR56A1	120796	broad.mit.edu	37	11	6048387	6048387	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:6048387T>A	ENST00000316650.5	-	1	584	c.548A>T	c.(547-549)aAc>aTc	p.N183I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGATGCAGTTCTCAATGAC	0.478000													37	77					0	0	0.003755	0	0
SRCIN1	80725	broad.mit.edu	37	17	36720486	36720486	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:36720486A>G	ENST00000264659.7	-	4	633	c.409T>C	c.(409-411)Tcc>Ccc	p.S137P	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.S171P	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	154					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GAGGCGTAGGACAGCTTTGCC	0.687000													3	5					0	0	0.004672	0	0
DOK6	220164	broad.mit.edu	37	18	67406203	67406203	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr18:67406203T>C	ENST00000382713.5	+	6	792	c.602T>C	c.(601-603)aTg>aCg	p.M201T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	201	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCACAGAATGTGTGACACA	0.453000													30	77					0	0	0.002445	0	0
MED26	9441	broad.mit.edu	37	19	16687968	16687968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:16687968C>T	ENST00000263390.3	-	3	935	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A233T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	225					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GGTCGCACGGCGTTGACGGGG	0.672000													16	48					0	0	0.003163	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:125555397G>A	ENST00000522532.1	+	2	218	c.171G>A	c.(169-171)atG>atA	p.M57I	NDUFB9_ENST00000518008.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000517367.1_Missense_Mutation_p.M46I|NDUFB9_ENST00000276689.3_Missense_Mutation_p.M57I			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	57					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAAGGATATGGCGAAGGCCA	0.463000													29	24					0	0	0.006320	0	0
CCDC158	339965	broad.mit.edu	37	4	77303790	77303790	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:77303790C>A	ENST00000388914.3	-	7	1039	c.887G>T	c.(886-888)aGt>aTt	p.S296I	CCDC158_ENST00000434846.2_Missense_Mutation_p.S296I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	296										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTCTGGATACTATTGGCTTG	0.333000													12	38					0.00010058	0.000224081	0.001368	1	0
TTN	7273	broad.mit.edu	37	2	179571433	179571433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:179571433C>A	ENST00000589042.1	-	102	29392	c.29168G>T	c.(29167-29169)gGt>gTt	p.G9723V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9406V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8479V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9406	Ig-like 78.						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)			GATTGGGTCACCTCCAACTTT	0.368000													31	98					2.85442e-18	8.02422e-18	0.002096	1	0
NMUR1	10316	broad.mit.edu	37	2	232390111	232390111	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:232390111G>C	ENST00000305141.4	-	3	1057	c.924C>G	c.(922-924)atC>atG	p.I308M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	308					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCCCAGCAGATGCCAAACA	0.657000													7	36					0	0	0.003080	0	0
GBP1	2633	broad.mit.edu	37	1	89523674	89523674	+	Splice_Site	SNP	C	C	A	rs139189718	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:89523674C>A	ENST00000370473.4	-	6	1094		c.e6+1			NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.?(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGGGACTTACGAGGCCCGTT	0.423000													28	63					3.65163e-15	9.88354e-15	0.006320	1	0
NAV3	89795	broad.mit.edu	37	12	78400711	78400711	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:78400711C>A	ENST00000397909.2	+	8	1566	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	NAV3_ENST00000266692.7_Missense_Mutation_p.P465T|NAV3_ENST00000228327.6_Missense_Mutation_p.P465T|NAV3_ENST00000536525.2_Missense_Mutation_p.P465T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	465						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTGCTACAGCCAAAGGAAAA	0.408000										HNSCC(70;0.22)			12	56					2.80697e-09	6.99075e-09	0.000978	1	0
PSD	5662	broad.mit.edu	37	10	104173584	104173584	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:104173584G>T	ENST00000020673.5	-	5	2021	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T	PSD_ENST00000406432.1_Missense_Mutation_p.P499T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	499					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGACTAGGGGGCTCCCTCCCT	0.632000													9	33					1.33987e-11	3.4826e-11	0.000673	1	0
C19orf35	374872	broad.mit.edu	37	19	2276353	2276353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:2276353C>T	ENST00000342063.3	-	4	841	c.748G>A	c.(748-750)Gca>Aca	p.A250T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	250										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCACTGCGCCTCTCCAG	0.711000													7	16					0	0	0.001984	0	0
NLRP12	91662	broad.mit.edu	37	19	54313274	54313274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:54313274C>T	ENST00000324134.6	-	3	1807	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	NLRP12_ENST00000345770.5_Missense_Mutation_p.E547K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E547K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E547K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E547K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E547K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E547K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E547K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	547					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACGCGTACTCGGTCAACAGC	0.572000													44	86					0	0	0.002852	0	0
C3orf20	84077	broad.mit.edu	37	3	14769945	14769945	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:14769945G>T	ENST00000253697.3	+	12	2142		c.e12-1		C3orf20_ENST00000412910.1_Splice_Site|C3orf20_ENST00000435614.1_Splice_Site	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20							cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTGTTAACAGGTCTGTTTAC	0.507000													19	35					1.33834e-09	3.3846e-09	0.000958	1	0
CLEC7A	64581	broad.mit.edu	37	12	10279171	10279171	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:10279171T>A	ENST00000304084.8	-	3	493	c.340_splice	c.e3+1	p.T113_splice	CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000533022.1_Splice_Site_p.T113_splice|CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000298523.5_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	113					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGCCCTTGCCTGTGGTTTTGA	0.423000													31	89					0	0	0.002096	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648688	62648688	+	Silent	SNP	T	T	A	rs148015761		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:62648688T>A	ENST00000337910.5	-	6	1075	c.738A>T	c.(736-738)ccA>ccT	p.P246P	RHOBTB1_ENST00000357917.4_Silent_p.P246P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGGACACTCTGGAATTTTGA	0.478000													41	137					0	0	0.001706	0	0
RHPN1	114822	broad.mit.edu	37	8	144459586	144459586	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:144459586G>T	ENST00000289013.6	+	4	443	c.342G>T	c.(340-342)ctG>ctT	p.L114L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	114	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCCTGGGCCTGAAGGAGACCA	0.612000													21	20					0.000295444	0.000647209	0.002299	1	0
SZT2	23334	broad.mit.edu	37	1	43903291	43903291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:43903291C>T	ENST00000562955.1	+	44	6145	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	SZT2_ENST00000372442.1_Missense_Mutation_p.R1207W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2106						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGCAGTGACCGGCCATGGAA	0.577000													13	41					0	0	0.001368	0	0
AHI1	54806	broad.mit.edu	37	6	135639745	135639745	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:135639745T>G	ENST00000367800.4	-	24	3554	c.3338A>C	c.(3337-3339)cAa>cCa	p.Q1113P	AHI1_ENST00000457866.2_Missense_Mutation_p.Q1113P|AHI1_ENST00000417892.2_Missense_Mutation_p.Q467P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1113						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGCAGTTCTTGATACAGTGC	0.393000													3	9					0	0	0.004672	0	0
INTS1	26173	broad.mit.edu	37	7	1515969	1515969	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:1515969G>A	ENST00000389470.4	-	39	5885	c.5886C>T	c.(5884-5886)atC>atT	p.I1962I	INTS1_ENST00000404767.3_Silent_p.I1758I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1758					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCGGGCCTGGATGAGGCTGC	0.687000													4	6					0	0	0.000602	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012694	73012694	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:73012694G>C	ENST00000308744.6	+	4	832		c.e4-1		NPFFR2_ENST00000395999.1_Splice_Site|NPFFR2_ENST00000358749.3_Splice_Site|NPFFR2_ENST00000506359.1_Splice_Site|NPFFR2_ENST00000344413.5_Splice_Site	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2						detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTAATTGCAGGTTCCAGTGT	0.398000													39	126					0	0	0.006999	0	0
SPO11	23626	broad.mit.edu	37	20	55909825	55909825	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:55909825T>C	ENST00000371263.3	+	6	639	c.530T>C	c.(529-531)tTa>tCa	p.L177S	SPO11_ENST00000371260.4_Missense_Mutation_p.L139S|SPO11_ENST00000345868.4_Missense_Mutation_p.L139S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	177					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAAAGGTTTAATTGCTGGC	0.363000								Editing and processing nucleases					8	23					0	0	0.003080	0	0
RELN	5649	broad.mit.edu	37	7	103270558	103270558	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:103270558G>C	ENST00000428762.1	-	20	2690	c.2531C>G	c.(2530-2532)cCg>cGg	p.P844R	RELN_ENST00000424685.2_Missense_Mutation_p.P844R|RELN_ENST00000343529.5_Missense_Mutation_p.P844R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	844					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAATGATACGGTTGCCACCA	0.363000													11	69					0	0	0.000673	0	0
CYP3A4	1576	broad.mit.edu	37	7	99358513	99358513	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:99358513G>T	ENST00000354593.2	-	7	998	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CYP3A4_ENST00000336411.2_Missense_Mutation_p.L449I			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	449					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)	ATGTTCATGAGAGCAAACCTC	0.383000													36	85					6.05902e-23	1.74064e-22	0.003755	1	0
ABLIM2	84448	broad.mit.edu	37	4	8037890	8037890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:8037890G>A	ENST00000318888.4	-	10	1175	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ABLIM2_ENST00000361737.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000296372.8_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000341937.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000361581.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000447017.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000407564.3_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000545242.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000546334.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000505872.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000428004.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000514025.1_Nonsense_Mutation_p.Q102*			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	345	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCGTAGCTCTGCCTGTCCCCT	0.592000													4	13					0	0	0.000248	0	0
USP6NL	9712	broad.mit.edu	37	10	11505159	11505159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:11505159C>T	ENST00000379237.1	-	15	2162	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	USP6NL_ENST00000277575.5_Missense_Mutation_p.A607T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	590						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTTGGCTCAGCGTGCTTTCTC	0.562000													18	24					0	0	0.004990	0	0
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:100701061C>A	ENST00000370132.3	-	3	195	c.182G>T	c.(181-183)cGt>cTt	p.R61L	DBT_ENST00000370131.3_Missense_Mutation_p.R61L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333000													9	22					5.4927e-09	1.33744e-08	0.004482	1	0
CALCOCO1	57658	broad.mit.edu	37	12	54115880	54115880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:54115880G>A	ENST00000548263.1	-	5	586	c.538C>T	c.(538-540)Cga>Tga	p.R180*	CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.R147*|CALCOCO1_ENST00000550804.1_Nonsense_Mutation_p.R180*|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.R180*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	180	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTGCACTCGGCTCCTCAGC	0.607000													32	81					0	0	0.001786	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913657	39913657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:39913657C>T	ENST00000425673.1	+	16	2201	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R655C|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAAGGTTCTCGCCTTCCTAG	0.527000													46	125					0	0	0.003610	0	0
NSD1	64324	broad.mit.edu	37	5	176710803	176710803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:176710803G>A	ENST00000439151.2	+	20	6070	c.6025G>A	c.(6025-6027)Gct>Act	p.A2009T	NSD1_ENST00000347982.4_Missense_Mutation_p.A1740T|NSD1_ENST00000361032.4_Missense_Mutation_p.A1906T|NSD1_ENST00000354179.4_Missense_Mutation_p.A1740T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2009	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATCATTGATGCTGGTCCCAA	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	72					0	0	0.004656	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346945	140346945	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:140346945G>A	ENST00000289269.5	+	1	1126	c.594G>A	c.(592-594)aaG>aaA	p.K198K	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		198	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCTTAAGCCCCTGCAGG	0.612000													5	16					0	0	0.000602	0	0
NF1	4763	broad.mit.edu	37	17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.T700S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACCCTGACACTGAAGCTGTT	0.552000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	107					0	0	0.004672	0	0
NLRP12	91662	broad.mit.edu	37	19	54313275	54313275	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:54313275G>C	ENST00000324134.6	-	3	1806	c.1638C>G	c.(1636-1638)acC>acG	p.T546T	NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T|NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	546					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGCGTACTCGGTCAACAGCC	0.567000													44	89					0	0	0.002852	0	0
DMBT1	1755	broad.mit.edu	37	10	124358568	124358568	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:124358568T>A	ENST00000338354.3	+	26	3341	c.3235T>A	c.(3235-3237)Tcc>Acc	p.S1079T	DMBT1_ENST00000344338.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.S580T|DMBT1_ENST00000330163.4_Missense_Mutation_p.S580T|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1079T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1079	SRCR 8.				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	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			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)				TGGCTGGCTCTCCCACAACTG	0.572000													7	180					0	0	0.002450	0	0
MYT1L	23040	broad.mit.edu	37	2	1796146	1796146	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:1796146T>C	ENST00000399161.2	-	24	4114	c.3367A>G	c.(3367-3369)Aac>Gac	p.N1123D	MYT1L_ENST00000407844.1_Missense_Mutation_p.N121D|MYT1L_ENST00000428368.2_Missense_Mutation_p.N1121D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1123					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCTCAGGTTCGCCAGCTCG	0.547000													5	12					0	0	0.000602	0	0
OR2B2	81697	broad.mit.edu	37	6	27879226	27879226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:27879226G>A	ENST00000303324.2	-	1	948	c.872C>T	c.(871-873)aCa>aTa	p.T291I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTTCCTAAGTGTATATATAAG	0.398000													10	44					0	0	0.000673	0	0
FSHR	2492	broad.mit.edu	37	2	49189901	49189901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:49189901C>G	ENST00000406846.2	-	10	2178	c.2059G>C	c.(2059-2061)Gtc>Ctc	p.V687L	FSHR_ENST00000304421.4_Missense_Mutation_p.V661L|FSHR_ENST00000346173.3_Missense_Mutation_p.V625L|FSHR_ENST00000541117.1_Missense_Mutation_p.V423L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	687					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTAGAGGGACAAGTATGTAA	0.418000									Gonadal Dysgenesis, 46 XX				13	44					0	0	0.001855	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459041	45459041	+	RNA	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:45459041G>C	ENST00000548424.1	+	0	448																											TTCACCAACTGGATAAATTGG	0.433000													15	31					0	0	0.003163	0	0
TEX9	374618	broad.mit.edu	37	15	56683602	56683602	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:56683602A>T	ENST00000558083.2	+	6	662	c.332A>T	c.(331-333)aAt>aTt	p.N111I	TEX9_ENST00000352903.2_Missense_Mutation_p.N186I|TEX9_ENST00000561221.2_Missense_Mutation_p.N186I|TEX9_ENST00000537232.1_Missense_Mutation_p.N111I			Q8N6V9	TEX9_HUMAN	testis expressed 9	186										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GGTGTTAGTAATGACATTGGA	0.313000													11	27					0	0	0.000673	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84564687	84564687	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr9:84564687T>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TATCCTGCAATGATTAGACAG	0.478000													14	12					0	0	0.004990	0	0
AKAP12	9590	broad.mit.edu	37	6	151673477	151673477	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:151673477T>A	ENST00000402676.2	+	4	4191	c.3951T>A	c.(3949-3951)gaT>gaA	p.D1317E	AKAP12_ENST00000354675.6_Missense_Mutation_p.D1219E|AKAP12_ENST00000253332.1_Missense_Mutation_p.D1317E|AKAP12_ENST00000359755.5_Missense_Mutation_p.D1212E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1317					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTAAAAAGGATGATGCTCTTG	0.478000													23	77					0	0	0.002299	0	0
PTPRS	5802	broad.mit.edu	37	19	5222178	5222178	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:5222178T>A	ENST00000372412.4	-	19	3393	c.3160A>T	c.(3160-3162)Agc>Tgc	p.S1054C	PTPRS_ENST00000592099.1_Missense_Mutation_p.S622C|PTPRS_ENST00000357368.4_Missense_Mutation_p.S1053C|PTPRS_ENST00000348075.2_Missense_Mutation_p.S1031C|PTPRS_ENST00000262963.6_Missense_Mutation_p.S1049C|PTPRS_ENST00000353284.2_Missense_Mutation_p.S622C|PTPRS_ENST00000587303.1_Missense_Mutation_p.S1053C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.S1031C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1053	Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACTCCCAGCTGAGCAGAACT	0.587000													26	71					0	0	0.005443	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966279	88966279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:88966279G>A	ENST00000333190.4	+	4	4592	c.3983G>A	c.(3982-3984)tGc>tAc	p.C1328Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1328						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCATTCTTGCTCTAGCCAG	0.393000										HNSCC(36;0.09)			16	58					0	0	0.003163	0	0
WHSC1	7468	broad.mit.edu	37	4	1936943	1936943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:1936943A>T	ENST00000503128.1	+	7	1835	c.1628A>T	c.(1627-1629)gAc>gTc	p.D543V	WHSC1_ENST00000398261.1_Missense_Mutation_p.D543V|WHSC1_ENST00000382891.5_Missense_Mutation_p.D543V|WHSC1_ENST00000514045.1_Missense_Mutation_p.D543V|WHSC1_ENST00000420906.2_Missense_Mutation_p.D543V|WHSC1_ENST00000382895.3_Missense_Mutation_p.D543V|WHSC1_ENST00000382892.2_Missense_Mutation_p.D543V|WHSC1_ENST00000508803.1_Missense_Mutation_p.D543V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	543					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAGCTGAGGACACACCCAGG	0.458000			T	IGH@	MM								15	39					0	0	0.002450	0	0
GTF3C3	9330	broad.mit.edu	37	2	197650199	197650199	+	Missense_Mutation	SNP	T	T	C	rs138093114		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:197650199T>C	ENST00000263956.3	-	7	1096	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	GTF3C3_ENST00000409364.3_Missense_Mutation_p.Y336C|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	336						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTTAGAAATATATAGTTCAGC	0.358000													8	33					0	0	0.006214	0	0
CAMK4	814	broad.mit.edu	37	5	110819999	110819999	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:110819999G>A	ENST00000282356.4	+	11	1655	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.K419K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	419					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGTGCCCAAGGCAGTGGAGG	0.537000													15	35					0	0	0.006122	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67275066	67275066	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:67275066C>A	ENST00000301488.3	-	2	725	c.177G>T	c.(175-177)gtG>gtT	p.V59V	CDK2AP2_ENST00000531506.1_Silent_p.V59V	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	59										lung(1)	1						CACTCACCTGCACGTAGCCCA	0.627000													9	39					5.4927e-09	1.33744e-08	0.004482	1	0
POLQ	10721	broad.mit.edu	37	3	121208845	121208845	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:121208845T>C	ENST00000264233.5	-	16	3061	c.2933A>G	c.(2932-2934)cAa>cGa	p.Q978R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	978					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGATGTTCTTGATTCCCATT	0.353000								DNA polymerases (catalytic subunits)					16	44					0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2823313	2823313	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:2823313G>T	ENST00000520002.1	-	60	9822	c.9267C>A	c.(9265-9267)agC>agA	p.S3089R	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3089R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3088R|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3089	Sushi 24.					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)		AGACAGGTTTGCTCGGATTCC	0.413000													7	10					0.000274275	0.000602853	0.004482	1	0
FSHR	2492	broad.mit.edu	37	2	49381534	49381534	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:49381534A>G	ENST00000406846.2	-	1	142	c.23T>C	c.(22-24)tTg>tCg	p.L8S	FSHR_ENST00000304421.4_Missense_Mutation_p.L8S|FSHR_ENST00000346173.3_Missense_Mutation_p.L8S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	8					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAATGCCAGCAAAGAGACCAG	0.488000									Gonadal Dysgenesis, 46 XX				9	45					0	0	0.000673	0	0
RIN3	79890	broad.mit.edu	37	14	93125658	93125658	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:93125658C>G	ENST00000216487.7	+	7	2338	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	727	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACCACTGACCTAGGTGTGAC	0.552000													33	102					0	0	0.001786	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913658	39913658	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:39913658G>T	ENST00000425673.1	+	16	2202	c.1877G>T	c.(1876-1878)cGc>cTc	p.R626L	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R655L|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGGTTCTCGCCTTCCTAGT	0.527000													46	127					5.34276e-22	1.52817e-21	0.003610	1	0
CPAMD8	27151	broad.mit.edu	37	19	17104378	17104378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:17104378C>A	ENST00000443236.1	-	12	1286	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D372Y	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	372						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						GGGCTGCCATCGGGGTAGGAT	0.532000													13	33					3.27435e-08	7.91403e-08	0.002450	1	0
CADPS2	93664	broad.mit.edu	37	7	122221318	122221318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:122221318G>T	ENST00000334010.7	-	7	1671	c.1250C>A	c.(1249-1251)aCc>aAc	p.T417N	CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000412584.2_Missense_Mutation_p.T417N|CADPS2_ENST00000313070.7_Missense_Mutation_p.T417N|CADPS2_ENST00000449022.2_Missense_Mutation_p.T417N	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	417	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGATGGGTGGTGGTGAAATC	0.443000													16	101					3.41278e-10	8.73192e-10	0.004990	1	0
PRSS54	221191	broad.mit.edu	37	16	58325037	58325037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:58325037C>T	ENST00000219301.4	-	4	483	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	PRSS54_ENST00000567164.1_Missense_Mutation_p.C30Y|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	30					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGACGCCACAACCTGCGGA	0.622000													11	24					0	0	0.000978	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265101	41265101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr22:41265101C>T	ENST00000357137.4	+	2	247	c.163C>T	c.(163-165)Cca>Tca	p.P55S	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P55S|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P32S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P55S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	55					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTTACACACCCACACCTCCT	0.488000													27	92					0	0	0.005443	0	0
PLCB1	23236	broad.mit.edu	37	20	8737765	8737765	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:8737765C>A	ENST00000378641.3	+	24	3071	c.2596C>A	c.(2596-2598)Cac>Aac	p.H866N	PLCB1_ENST00000338037.6_Missense_Mutation_p.H866N|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.H866N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	866					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGGTGAATCACACTACAAC	0.498000													24	34					1.85244e-09	4.64885e-09	0.003330	1	0
RASAL1	8437	broad.mit.edu	37	12	113541858	113541858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:113541858G>T	ENST00000546530.1	-	19	2285	c.2000C>A	c.(1999-2001)tCg>tAg	p.S667*	RASAL1_ENST00000446861.3_Nonsense_Mutation_p.S637*|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.S666*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.S665*	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	665	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGCAAGGCCGAGAGCCACTG	0.711000													3	15					6.4e-05	0.000144055	0.004672	1	0
VPS13C	54832	broad.mit.edu	37	15	62242607	62242607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:62242607C>A	ENST00000261517.5	-	41	4619	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1516Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1516					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTGGTCCATCACTGTCTGCC	0.313000													5	15					0.000602214	0.00130613	0.000602	1	0
SON	6651	broad.mit.edu	37	21	34927512	34927512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr21:34927512G>A	ENST00000356577.4	+	3	6450	c.5975G>A	c.(5974-5976)aGc>aAc	p.S1992N	SON_ENST00000290239.6_Missense_Mutation_p.S1992N|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1992N|SON_ENST00000300278.4_Missense_Mutation_p.S1992N	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1992	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						agccgtcggagccgcacccca	0.672000													16	39					0	0	0.003163	0	0
ABAT	18	broad.mit.edu	37	16	8851634	8851634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr16:8851634C>G	ENST00000396600.2	+	6	1275	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ABAT_ENST00000569156.1_Missense_Mutation_p.L113V|ABAT_ENST00000268251.8_Missense_Mutation_p.L113V|ABAT_ENST00000425191.2_Missense_Mutation_p.L113V|ABAT_ENST00000567812.1_Missense_Mutation_p.L128V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	113				L -> V (in Ref. 1; AAA74449).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCCCGCCCTGCTGAAACTCAT	0.522000													11	43					0	0	0.001855	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590672	136590672	+	Missense_Mutation	SNP	G	G	C	rs140624845		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:136590672G>C	ENST00000531224.1	-	9	2374	c.2122C>G	c.(2122-2124)Cgg>Ggg	p.R708G	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R708G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R706G|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R706G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R535G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R706G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	708					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATCTCCCCGTTCTTTACTT	0.388000													10	74					0	0	0.004007	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530436	5530436	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:5530436G>T	ENST00000311659.4	-	2	500	c.353C>A	c.(352-354)cCt>cAt	p.P118H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	118										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGGCTGAGGGAGTGATCC	0.607000													14	36					4.3838e-07	1.04036e-06	0.001855	1	0
LPIN2	9663	broad.mit.edu	37	18	2937737	2937737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr18:2937737G>A	ENST00000261596.4	-	7	1359	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	374					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTGGATTCTGAGGGCGCCTC	0.463000													20	74					0	0	0.001216	0	0
HKR1	284459	broad.mit.edu	37	19	37838218	37838218	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:37838218G>C	ENST00000324411.4	+	4	486	c.217_splice	c.e4+1	p.E73_splice	HKR1_ENST00000589392.1_Splice_Site_p.E54_splice|HKR1_ENST00000591417.1_Splice_Site_p.E12_splice|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000591134.1_Splice_Site_p.E12_splice|HKR1_ENST00000392153.3_Splice_Site_p.E54_splice|HKR1_ENST00000592168.1_Splice_Site_p.E12_splice|HKR1_ENST00000544914.1_Intron|HKR1_ENST00000591259.1_Splice_Site_p.E54_splice|HKR1_ENST00000586897.1_Splice_Site_p.E12_splice|HKR1_ENST00000541583.2_Splice_Site_p.E12_splice	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	73	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCACTGGGTAAGAATGG	0.522000													21	40					0	0	0.001523	0	0
SGCB	6443	broad.mit.edu	37	4	52895030	52895030	+	Missense_Mutation	SNP	T	T	C	rs116157710	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:52895030T>C	ENST00000381431.5	-	4	709	c.487A>G	c.(487-489)Aca>Gca	p.T163A	SGCB_ENST00000535450.1_Missense_Mutation_p.T93A	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	163	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATGTCACTTGTAATAGAAGTT	0.343000													3	49					0	0	0.000248	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737775	7737775	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:7737775G>T	ENST00000303635.7	+	11	3103	c.2896G>T	c.(2896-2898)Gac>Tac	p.D966Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D966Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCCCAGCACGACTGGCTGTC	0.557000			T	WWTR1	epitheliod hemangioendothelioma								21	52					2.32416e-17	6.47797e-17	0.002299	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734346	12734346	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chrX:12734346A>G	ENST00000380682.1	+	15	2274	c.1768A>G	c.(1768-1770)Aaa>Gaa	p.K590E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	590					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATGTGTCCAAAAGAGCACCG	0.507000													30	67					0	0	0.006320	0	0
CNOT3	4849	broad.mit.edu	37	19	54646740	54646740	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:54646740G>T	ENST00000406403.1	+	1	1628		c.e1+1		CNOT3_ENST00000358389.3_Splice_Site|CNOT3_ENST00000221232.5_Splice_Site			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAACTCCAAGGTACTAGACTG	0.537000													20	81					1.96292e-10	5.06187e-10	0.001523	1	0
ZNF140	7699	broad.mit.edu	37	12	133682776	133682776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:133682776G>T	ENST00000355557.2	+	5	2196	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonsense_Mutation_p.E202*	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCATTGAATGTGGGAA	0.408000													20	48					2.94398e-08	7.14188e-08	0.000958	1	0
KLC3	147700	broad.mit.edu	37	19	45852823	45852823	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:45852823C>A	ENST00000470402.1	+	7	1248	c.1148C>A	c.(1147-1149)cCc>cAc	p.P383H	KLC3_ENST00000585434.1_Missense_Mutation_p.P368H|KLC3_ENST00000391946.2_Missense_Mutation_p.P369H			Q6P597	KLC3_HUMAN	kinesin light chain 3	369						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGCGGGCCCCATGACCCC	0.647000													13	33					4.7546e-09	1.16639e-08	0.004007	1	0
DPPA4	55211	broad.mit.edu	37	3	109049491	109049491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:109049491C>A	ENST00000335658.6	-	5	613	c.559G>T	c.(559-561)Gag>Tag	p.E187*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	187						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAACTCCCTCAAGGAGAGCA	0.577000													20	75					8.00594e-06	1.83353e-05	0.000958	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41450706	41450706	+	RNA	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:41450706G>C	ENST00000599198.1	+	0	1297					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCACTTTCTGGATGCCAATGG	0.498000													43	144					0	0	0.003214	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407522	148407522	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr5:148407522C>A	ENST00000538184.1	-	7	1302	c.414G>T	c.(412-414)ctG>ctT	p.L138L	SH3TC2_ENST00000394358.2_Silent_p.L476L|SH3TC2_ENST00000512049.1_Silent_p.L584L|SH3TC2_ENST00000515425.1_Silent_p.L591L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	591							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTTCCAACAGGGCGGAGC	0.562000													20	37					1.64113e-05	3.73244e-05	0.001523	1	0
MEGF11	84465	broad.mit.edu	37	15	66249955	66249955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:66249955G>T	ENST00000409699.2	-	10	1389	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H	MEGF11_ENST00000422354.1_Missense_Mutation_p.P406H|MEGF11_ENST00000360698.4_Missense_Mutation_p.P406H|MEGF11_ENST00000395625.2_Missense_Mutation_p.P331H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.P331H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	406	EGF-like 7.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACAGGTGCAAGGCAGCTGGCA	0.612000													9	19					1.12685e-05	2.57173e-05	0.004482	1	0
MMRN1	22915	broad.mit.edu	37	4	90856410	90856410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:90856410T>A	ENST00000394980.1	+	7	1898	c.1579T>A	c.(1579-1581)Tca>Aca	p.S527T	MMRN1_ENST00000264790.2_Missense_Mutation_p.S527T|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.S269T			Q13201	MMRN1_HUMAN	multimerin 1	527					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAACAGGTATCAGACCAGAA	0.363000													18	62					0	0	0.004990	0	0
SGCE	8910	broad.mit.edu	37	7	94259126	94259126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:94259126G>T	ENST00000415788.2	-	3	332	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	SGCE_ENST00000447873.1_Missense_Mutation_p.S46Y|SGCE_ENST00000445866.2_Missense_Mutation_p.S46Y|SGCE_ENST00000428696.2_Missense_Mutation_p.S46Y|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000265735.7_Missense_Mutation_p.S46Y			O43556	SGCE_HUMAN	sarcoglycan, epsilon	46					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTCCGATCGGAGTGTACCTT	0.398000													10	81					0.000442599	0.000966342	0.006214	1	0
ZNF808	388558	broad.mit.edu	37	19	53058333	53058333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:53058333C>A	ENST00000359798.4	+	5	2344	c.2164C>A	c.(2164-2166)Ctt>Att	p.L722I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGGTCATCCCTTGTATGCCA	0.443000													7	265					0.00307968	0.00652812	0.003080	1	0
KMT2C	58508	broad.mit.edu	37	7	151845956	151845956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:151845956C>T	ENST00000355193.2	-	53	13445	c.13227G>A	c.(13225-13227)tgG>tgA	p.W4409*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W4352*					lysine (K)-specific methyltransferase 2C																		TCATTCCTCTCCATTTTTTAT	0.433000													11	41					0	0	0.000673	0	0
HTR1E	3354	broad.mit.edu	37	6	87725251	87725251	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:87725251A>G	ENST00000305344.4	+	2	902	c.199A>G	c.(199-201)Acg>Gcg	p.T67A	HTR1E_ENST00000369584.1_Missense_Mutation_p.T67A	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTGGCCGTGACGGACCTCCT	0.557000													29	83					0	0	0.005443	0	0
PMS1	5378	broad.mit.edu	37	2	190670532	190670532	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:190670532G>T	ENST00000409985.1	+	4	634	c.470G>T	c.(469-471)tGt>tTt	p.C157F	PMS1_ENST00000441310.2_Intron|PMS1_ENST00000418224.3_Intron|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409823.3_Intron|PMS1_ENST00000374826.4_Intron|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000447232.2_Intron			P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	0					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGTCTTAATTGTTGGTTTAAA	0.353000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					6	17					0.00116845	0.00250928	0.001168	1	0
SRXN1	140809	broad.mit.edu	37	20	629443	629443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:629443C>A	ENST00000381962.3	-	2	513	c.329G>T	c.(328-330)cGa>cTa	p.R110L	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	110					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GATGGTCTCTCGCTGCAGTTG	0.607000													27	77					2.44723e-14	6.59645e-14	0.004656	1	0
MRPL10	124995	broad.mit.edu	37	17	45901757	45901757	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:45901757C>T	ENST00000290208.7	-	5	1082	c.630G>A	c.(628-630)ctG>ctA	p.L210L	MRPL10_ENST00000351111.2_Silent_p.L200L|MRPL10_ENST00000414011.1_Silent_p.L210L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	200					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCACCAGGGGCAGGCTGGGGA	0.617000													21	41					0	0	0.002299	0	0
RASSF3	283349	broad.mit.edu	37	12	65085357	65085357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:65085357G>A	ENST00000542104.1	+	4	685	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E189K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	189	SARAH.				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)		TGAAATTGGAGAGGTAAGTTA	0.453000													6	23					0	0	0.001984	0	0
MIR551B	693136	broad.mit.edu	37	3	168269715	168269715	+	RNA	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:168269715G>C	ENST00000384984.1	+	0	74					NR_030294.1																						ACCCATACTTGGTTTCAGAGG	0.433000													16	80					0	0	0.004007	0	0
PEAK1	79834	broad.mit.edu	37	15	77425541	77425541	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr15:77425541T>A	ENST00000560626.2	-	6	4358	c.3883A>T	c.(3883-3885)Aca>Tca	p.T1295S	PEAK1_ENST00000312493.4_Missense_Mutation_p.T1295S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1295					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AAGGCATCTGTATGAAGGCTT	0.507000													41	110					0	0	0.001951	0	0
CRB1	23418	broad.mit.edu	37	1	197396759	197396759	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:197396759G>A	ENST00000367397.1	+	3	1305	c.447G>A	c.(445-447)gaG>gaA	p.E149E	CRB1_ENST00000367399.2_Silent_p.E656E|CRB1_ENST00000535699.1_Silent_p.E699E|CRB1_ENST00000367400.3_Silent_p.E768E|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.E249E|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	768	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGGCTAGAGCGCGGCAGAC	0.418000													20	19					0	0	0.001882	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361997	72361997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:72361997G>A	ENST00000001146.2	-	4	957	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177W|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61W	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.R252R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCTTCTCCCGGATGGCCTTC	0.602000													18	36					0	0	0.001523	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106830017	106830017	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:106830017T>A	ENST00000390616.2	-	0	59																											GAACCACAGGTGTTTCATGTT	0.502000													9	41					0	0	0.006214	0	0
TRIM3	10612	broad.mit.edu	37	11	6477901	6477901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:6477901C>G	ENST00000525074.1	-	6	1449	c.1055G>C	c.(1054-1056)gGg>gCg	p.G352A	TRIM3_ENST00000359518.3_Missense_Mutation_p.G352A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G352A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.G233A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G274A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	352					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCAACCGCCCGTCCTTGTC	0.672000													18	57					0	0	0.001216	0	0
COL1A1	1277	broad.mit.edu	37	17	48268775	48268775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:48268775G>A	ENST00000225964.5	-	32	2322	c.2204C>T	c.(2203-2205)gCa>gTa	p.A735V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	735	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)	AAGACCAGCTGCACCACGTTC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						25	67					0	0	0.004656	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90043660	90043660	+	RNA	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:90043660G>A	ENST00000462693.1	+	0	54																											CTCAGCTTCTGGGGCTGCTAA	0.547000													8	15					0	0	0.001368	0	0
AHSA1	10598	broad.mit.edu	37	14	77929012	77929012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:77929012C>T	ENST00000216479.3	+	4	542	c.382C>T	c.(382-384)Cct>Tct	p.P128S	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.P128S	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	128					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGATGAGCCTGACACAAA	0.463000													19	63					0	0	0.001882	0	0
TACC1	6867	broad.mit.edu	37	8	38699961	38699961	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr8:38699961A>C	ENST00000379931.3	+	11	2532	c.2153A>C	c.(2152-2154)aAg>aCg	p.K718T	TACC1_ENST00000519416.1_Missense_Mutation_p.K510T|TACC1_ENST00000518415.1_Missense_Mutation_p.K632T|TACC1_ENST00000317827.4_Missense_Mutation_p.K706T|TACC1_ENST00000330691.6_Missense_Mutation_p.K280T|TACC1_ENST00000520615.1_Missense_Mutation_p.K511T|TACC1_ENST00000443286.2_Missense_Mutation_p.K693T|TACC1_ENST00000520611.1_Missense_Mutation_p.K143T|TACC1_ENST00000276520.8_Missense_Mutation_p.K296T|TACC1_ENST00000520973.1_Missense_Mutation_p.K482T|TACC1_ENST00000348567.4_Missense_Mutation_p.K268T			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	706	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GAAGGGTTCAAGAAGGTAGAG	0.453000													24	63					0	0	0.003954	0	0
OR52D1	390066	broad.mit.edu	37	11	5510098	5510098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:5510098G>C	ENST00000322641.5	+	1	184	c.162G>C	c.(160-162)atG>atC	p.M54I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGCCATGGACAATGCTC	0.527000													31	99					0	0	0.002445	0	0
POLH	5429	broad.mit.edu	37	6	43581937	43581937	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr6:43581937G>T	ENST00000372236.4	+	11	2080	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.M533I	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	595			M -> V (in dbSNP:rs9333555).		DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGCAGAGATGGATTTGGCCC	0.488000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				12	53					1.61879e-10	4.19094e-10	0.001368	1	0
DCAF16	54876	broad.mit.edu	37	4	17805350	17805350	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:17805350C>A	ENST00000382247.1	-	3	1475	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	DCAF16_ENST00000536863.1_Missense_Mutation_p.A139S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	139						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTTAGAGTGGCATGATCTCTA	0.488000													38	105					1.47197e-15	4.01725e-15	0.001706	1	0
WNK4	65266	broad.mit.edu	37	17	40933194	40933194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:40933194A>G	ENST00000246914.5	+	1	499	c.478A>G	c.(478-480)Atg>Gtg	p.M160V		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	160					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGGAGGACATGGAGACCCA	0.627000													19	49					0	0	0.001523	0	0
OR10A7	121364	broad.mit.edu	37	12	55615418	55615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:55615418C>T	ENST00000326258.1	+	1	610	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGCCTCCACACTCCTGTTTAT	0.463000													25	63					0	0	0.003330	0	0
FCRL5	83416	broad.mit.edu	37	1	157514694	157514694	+	Silent	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr1:157514694A>C	ENST00000361835.3	-	4	643	c.486T>G	c.(484-486)ggT>ggG	p.G162G	FCRL5_ENST00000368189.3_Silent_p.G162G|FCRL5_ENST00000368191.3_Silent_p.G77G|FCRL5_ENST00000356953.4_Silent_p.G162G|FCRL5_ENST00000368190.3_Silent_p.G162G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	162						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCGATATGCACCATTGTCCT	0.363000													13	98					0	0	0.001855	0	0
FER1L5	90342	broad.mit.edu	37	2	97361322	97361322	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:97361322T>A	ENST00000457909.1	+	0	3321							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAAGAGTCCCTGAGGACAGAA	0.592000													4	10					0	0	0.000602	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:146829568C>T	ENST00000361727.3	+	8	1831	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q439K(1)		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)			CAACATCACACAGACCAAGAT	0.423000										HNSCC(39;0.1)			4	32					0	0	0.000248	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657483	100657483	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr12:100657483A>G	ENST00000416321.1	-	2	348	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	116	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTAAGACAAGAGATGTCATTG	0.363000													23	77					0	0	0.001882	0	0
CYP4V2	285440	broad.mit.edu	37	4	187120147	187120147	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr4:187120147C>T	ENST00000378802.4	+	6	1015	c.711C>T	c.(709-711)ccC>ccT	p.P237P		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	237					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TAAAGATGCCCTGGCTTTGGC	0.368000													15	55					0	0	0.003163	0	0
CCDC40	55036	broad.mit.edu	37	17	78011950	78011950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr17:78011950G>C	ENST00000397545.4	+	2	85	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	CCDC40_ENST00000269318.5_Missense_Mutation_p.E20Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E20Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.E20Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	20					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGGCTTCTGAGGGAGAGAA	0.418000													5	35					0	0	0.001168	0	0
FOXR1	283150	broad.mit.edu	37	11	118850289	118850289	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:118850289C>G	ENST00000317011.3	+	4	747	c.522C>G	c.(520-522)ccC>ccG	p.P174P		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	174					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGTCCCGGCCCCCTCTCAATT	0.597000													15	85					0	0	0.002450	0	0
OR10A3	26496	broad.mit.edu	37	11	7960256	7960256	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:7960256T>C	ENST00000360759.3	-	1	885	c.812A>G	c.(811-813)aAg>aGg	p.K271R		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATCAGTTTCTTGGTTTCGGG	0.443000													11	56					0	0	0.000673	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514482	113514482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:113514482C>A	ENST00000302450.6	-	4	544	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	156						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCCTTGATCTGTTAACTGC	0.353000													15	68					0.000219431	0.000485566	0.002450	1	0
GZF1	64412	broad.mit.edu	37	20	23345471	23345471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:23345471G>T	ENST00000338121.5	+	2	528	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	GZF1_ENST00000377051.2_Missense_Mutation_p.V151L|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	151					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGAGGTGGAGGTGAGCAGTGG	0.493000													19	58					6.94344e-10	1.76277e-09	0.006122	1	0
IDH3B	3420	broad.mit.edu	37	20	2640691	2640691	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:2640691G>A	ENST00000380843.4	-	9	930	c.900C>T	c.(898-900)taC>taT	p.Y300Y	IDH3B_ENST00000380851.5_Silent_p.Y300Y|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	300					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAAAGACTGCGTATTCTGCAC	0.532000													28	109					0	0	0.006320	0	0
SNPH	9751	broad.mit.edu	37	20	1285985	1285985	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr20:1285985C>A	ENST00000381867.1	+	7	1546	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	SNPH_ENST00000381873.3_Missense_Mutation_p.L258M			O15079	SNPH_HUMAN	syntaphilin	258					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACGGACGCGCTGGAAGCCAG	0.682000													23	49					1.85244e-09	4.64885e-09	0.003330	1	0
SMC3	9126	broad.mit.edu	37	10	112328765	112328765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr10:112328765G>A	ENST00000361804.4	+	2	211	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	29					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAAACATAATGTGATTGGTAA	0.328000													32	28					0	0	0.002096	0	0
DYSF	8291	broad.mit.edu	37	2	71795363	71795363	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:71795363C>A	ENST00000258104.3	+	26	2982	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	DYSF_ENST00000413539.2_Missense_Mutation_p.P933H|DYSF_ENST00000410020.3_Missense_Mutation_p.P920H|DYSF_ENST00000409582.3_Missense_Mutation_p.P919H|DYSF_ENST00000429174.2_Missense_Mutation_p.P902H|DYSF_ENST00000410041.1_Missense_Mutation_p.P920H|DYSF_ENST00000409744.1_Missense_Mutation_p.P889H|DYSF_ENST00000409762.1_Missense_Mutation_p.P919H|DYSF_ENST00000409651.1_Missense_Mutation_p.P934H|DYSF_ENST00000409366.1_Missense_Mutation_p.P903H|DYSF_ENST00000394120.2_Missense_Mutation_p.P903H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	902						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						CTCACCTACCCCAAGTTTTCT	0.607000													67	227					2.01871e-26	5.85069e-26	0.003610	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399603	89399604	+	RNA	INS	-	-	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:89399603_89399604insG	ENST00000479981.1	-	0	125_126																											ACAGATGCAGACAGTGAGGATG	0.450													55	186	---	---	---	---					
FRZB	2487	broad.mit.edu	37	2	183723523	183723523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:183723523delC	ENST00000295113.4	-	2	1126	c.517delG	c.(517-519)cafs	p.A173fs		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	173					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A173S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCACTGCTTGCCCCTCTACAG	0.348													32	120	---	---	---	---					
FAM86HP	729375	broad.mit.edu	37	3	129822922	129822923	+	RNA	INS	-	-	CGA			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:129822922_129822923insCGA	ENST00000500074.2	-	0	389																											GCCCTGTGCCCCGAGGTCACCT	0.624													11	33	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	5	---	---	---	---					
ALPK1	80216	broad.mit.edu	37	4	113351810	113351811	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:113351810_113351811insG	ENST00000458497.1	+	11	1386_1387	c.1107_1108insG	c.(1105-1110)cagggafs	p.QG369fs	ALPK1_ENST00000504176.2_Frame_Shift_Ins_p.QG291fs|ALPK1_ENST00000177648.9_Frame_Shift_Ins_p.QG369fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	369							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAAGGCTCCATGGGGAGACAGG	0.515													21	57	---	---	---	---					
TMEM170B	100113407	broad.mit.edu	37	6	11565999	11565999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:11565999delG	ENST00000379426.1	+	2	198	c.198delG	c.(196-198)cafs	p.Q66fs	TMEM170B_ENST00000543875.1_Frame_Shift_Del_p.Q66fs	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	66						integral to membrane				large_intestine(3)|lung(5)	8						GGCATAGGCAGGGAAGAGTCA	0.463													33	157	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:114292109_114292110insCTG	ENST00000398283.2	-	1	249_250	c.245_246insCAG	c.(244-246)aag>aCAGag	p.82_82K>TE	RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688													4	4	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													4	7	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)acfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													9	431	---	---	---	---					
DPF2	5977	broad.mit.edu	37	11	65113793	65113793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:65113793delG	ENST00000528416.1	+	9	1113	c.980delG	c.(979-981)tcfs	p.C327fs	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Frame_Shift_Del_p.C341fs	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	327					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCATCGAGTGCAAATGTTGC	0.552													12	40	---	---	---	---					
MPZL3	196264	broad.mit.edu	37	11	118122936	118122937	+	Splice_Site	DEL	CC	CC	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118122936_118122937delCC	ENST00000278949.4	-	1	128_129	c.73_splice	c.e1+1	p.G25_splice	MPZL3_ENST00000527472.1_Splice_Site_p.25_splice|MPZL3_ENST00000525386.1_Splice_Site_p.25_splice			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	25					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAGCACTCACCCTGGAAGAAC	0.644													20	138	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2	---	---	---	---					
RARA	5914	broad.mit.edu	37	17	38508182	38508184	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:38508182_38508184delAAG	ENST00000254066.5	+	5	945_947	c.490_492delAAG	c.(490-492)del	p.K167del	RARA_ENST00000394081.3_In_Frame_Del_p.K162del|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_In_Frame_Del_p.K70del|RARA_ENST00000394089.2_In_Frame_Del_p.K167del|RARA_ENST00000394086.3_In_Frame_Del_p.K183del	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	167	Hinge.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGACCGAAACAAGAAGAAGAAGG	0.616			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								8	18	---	---	---	---					
SPPL2C	162540	broad.mit.edu	37	17	43922897	43922897	+	Frame_Shift_Del	DEL	G	G	-	rs929223	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:43922897delG	ENST00000329196.5	+	1	642	c.625delG	c.(625-627)aafs	p.E209fs	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	209						integral to membrane	aspartic-type endopeptidase activity										CGGCCTGACCGAAGCCAACCG	0.647													35	65	---	---	---	---					
ABCA7	10347	broad.mit.edu	37	19	1058907	1058912	+	In_Frame_Del	DEL	GGGGAT	GGGGAT	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:1058907_1058912delGGGGAT	ENST00000263094.6	+	39	5599_5604	c.5368_5373delGGGGAT	c.(5368-5373)del	p.GD1790del	ABCA7_ENST00000433129.1_In_Frame_Del_p.GD1790del|ABCA7_ENST00000435683.2_In_Frame_Del_p.GD1652del	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1790					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACCCAGGGGGATGTGTTGGTGC	0.626													10	56	---	---	---	---					
DUS3L	56931	broad.mit.edu	37	19	5787365	5787365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5787365delC	ENST00000309061.7	-	7	1316	c.1220delG	c.(1219-1221)gcfs	p.G407fs	DUS3L_ENST00000320699.8_Frame_Shift_Del_p.G165fs	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	407					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGCACAGCCCCCACCCTG	0.662													17	52	---	---	---	---					
CRLF1	9244	broad.mit.edu	37	19	18707506	18707506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:18707506delC	ENST00000392386.3	-	6	1143	c.950delG	c.(949-951)gcfs	p.G317fs		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	317	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCATAGATGCCAAAGGGGTT	0.642													7	27	---	---	---	---					
ZNF253	56242	broad.mit.edu	37	19	20002921	20002922	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:20002921_20002922delTG	ENST00000589717.1	+	4	957_958	c.865_866delTG	c.(865-867)tfs	p.C289fs	ZNF253_ENST00000355650.4_Frame_Shift_Del_p.C213fs	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	289				Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGTGAAGAATGTGGCAAAGCC	0.411													19	50	---	---	---	---					
FRZB	2487	broad.mit.edu	37	2	183723523	183723523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr2:183723523delC	ENST00000295113.4	-	2	1126	c.517delG	c.(517-519)cafs	p.A173fs		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	173					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A173S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCACTGCTTGCCCCTCTACAG	0.348													32	120	---	---	---	---					
FAM86HP	729375	broad.mit.edu	37	3	129822922	129822923	+	RNA	INS	-	-	CGA			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr3:129822922_129822923insCGA	ENST00000500074.2	-	0	389																											GCCCTGTGCCCCGAGGTCACCT	0.624													11	33	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													7	100	---	---	---	---					
DPF2	5977	broad.mit.edu	37	11	65113793	65113793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr11:65113793delG	ENST00000528416.1	+	9	1113	c.980delG	c.(979-981)tcfs	p.C327fs	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Frame_Shift_Del_p.C341fs	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	327					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCATCGAGTGCAAATGTTGC	0.552													12	40	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2	---	---	---	---					
ABCA7	10347	broad.mit.edu	37	19	1058907	1058912	+	In_Frame_Del	DEL	GGGGAT	GGGGAT	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:1058907_1058912delGGGGAT	ENST00000263094.6	+	39	5599_5604	c.5368_5373delGGGGAT	c.(5368-5373)del	p.GD1790del	ABCA7_ENST00000435683.2_In_Frame_Del_p.GD1652del|ABCA7_ENST00000433129.1_In_Frame_Del_p.GD1790del	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1790					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACCCAGGGGGATGTGTTGGTGC	0.626													10	56	---	---	---	---					
DUS3L	56931	broad.mit.edu	37	19	5787365	5787365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:5787365delC	ENST00000309061.7	-	7	1316	c.1220delG	c.(1219-1221)gcfs	p.G407fs	DUS3L_ENST00000320699.8_Frame_Shift_Del_p.G165fs	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	407					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGCACAGCCCCCACCCTG	0.662													17	52	---	---	---	---					
ZNF253	56242	broad.mit.edu	37	19	20002921	20002922	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	f50dc054-f0b0-4b11-be76-09ae612abc8e	g.chr19:20002921_20002922delTG	ENST00000589717.1	+	4	957_958	c.865_866delTG	c.(865-867)tfs	p.C289fs	ZNF253_ENST00000355650.4_Frame_Shift_Del_p.C213fs	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	289				Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGTGAAGAATGTGGCAAAGCC	0.411													19	50	---	---	---	---