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
SLC5A1	6523	broad.mit.edu	37	22	32500800	32500800	+	Missense_Mutation	SNP	A	A	T	rs33948878		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr22:32500800A>T	ENST00000266088.4	+	14	1943	c.1693A>T	c.(1693-1695)Aac>Tac	p.N565Y	SLC5A1_ENST00000543737.1_Missense_Mutation_p.N438Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	565					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GAGCCTGCGCAACAGCAAAGA	0.507000													13	24					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70493920	70493920	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:70493920G>T	ENST00000310961.5	+	19	2180	c.1762G>T	c.(1762-1764)Gtt>Ttt	p.V588F	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.V583F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	583						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTAAAATCTGTTCAAAATTT	0.338000													20	96					1.01871e-10	1.40806e-10	1	1	0
ATF5	22809	broad.mit.edu	37	19	50435872	50435872	+	Silent	SNP	A	A	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:50435872A>C	ENST00000423777.2	+	3	749	c.372A>C	c.(370-372)ccA>ccC	p.P124P	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.P124P	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	124	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCTCccaccaccctccccgc	0.642000													3	2					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51754523	51754523	+	Silent	SNP	G	G	A	rs138065864		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:51754523G>A	ENST00000543196.2	-	6	1354	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	GALNT6_ENST00000356317.3_Silent_p.N383N			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	383	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N383N(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATTTCCACGTTCTCCCCTC	0.542000													13	103					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590250	158590250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:158590250C>A	ENST00000368148.3	-	44	6307	c.6127G>T	c.(6127-6129)Gac>Tac	p.D2043Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.D2040Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2043					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGAACAGGTCCTCAGCCTGC	0.418000													34	74					2.38352e-08	3.09975e-08	1	1	0
ESX1	80712	broad.mit.edu	37	X	103495260	103495260	+	Silent	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:103495260G>T	ENST00000372588.4	-	4	953	c.870C>A	c.(868-870)cgC>cgA	p.R290R		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	290	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CAGGCGCCATGCGTGGCCCGG	0.736000													26	27					2.44723e-14	3.60932e-14	1	1	0
MUC16	94025	broad.mit.edu	37	19	9075071	9075071	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:9075071C>T	ENST00000397910.4	-	3	12578	c.12375G>A	c.(12373-12375)acG>acA	p.T4125T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4127	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTCTGAGTCGTAGCCAGTG	0.502000													9	59					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121348857	121348857	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:121348857T>C	ENST00000260197.7	+	3	562	c.433T>C	c.(433-435)Ttc>Ctc	p.F145L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	145					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGAAAATCATTCAAGAAAAT	0.413000													5	77					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58016058	58016058	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:58016058T>C	ENST00000599847.1	+	2	209	c.67T>C	c.(67-69)Tac>Cac	p.Y23H	AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000282292.4_Missense_Mutation_p.Y23H|ZNF773_ENST00000598770.1_Missense_Mutation_p.Y22H|ZNF773_ENST00000593916.1_Missense_Mutation_p.Y22H			Q6PK81	ZN773_HUMAN	zinc finger protein 773	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CGTGGCTGTCTACTTCTCCCA	0.502000													20	120					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841673	5841673	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:5841673G>C	ENST00000317037.2	+	1	130	c.108G>C	c.(106-108)atG>atC	p.M36I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTTTATGTACATCATTG	0.562000													36	85					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50095896	50095896	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:50095896G>A	ENST00000443081.1	+	10	2554	c.1635G>A	c.(1633-1635)gaG>gaA	p.E545E	RBM6_ENST00000266022.4_Silent_p.E677E|RBM6_ENST00000442092.1_Silent_p.E155E|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Silent_p.E19E|RBM6_ENST00000422955.1_Silent_p.E155E			P78332	RBM6_HUMAN	RNA binding motif protein 6	677					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAGTGCTGGAGCCCTATGTCC	0.502000													41	195					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896392	100896392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:100896392C>A	ENST00000369208.3	-	7	1488	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	SIM1_ENST00000262901.4_Missense_Mutation_p.A236S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	236	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCAGGCTGGCGCGGAACATA	0.622000													6	33					0.00116845	0.00127467	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78717321	78717321	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:78717321C>T	ENST00000436010.2	-	11	2642	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	ROBO1_ENST00000464233.1_Missense_Mutation_p.G588R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G552R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G552R			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	588					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGAGTTGCTCCTGAATTCAAA	0.388000													13	54					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21992515	21992515	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:21992515T>G	ENST00000594012.1	-	7	820	c.306A>C	c.(304-306)gaA>gaC	p.E102D	ZNF43_ENST00000354959.4_Missense_Mutation_p.E108D|ZNF43_ENST00000598381.1_Missense_Mutation_p.E102D|ZNF43_ENST00000595461.1_Missense_Mutation_p.E102D	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATTTTTATGTTCACAGTTTT	0.358000													38	91					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2116020	2116020	+	Silent	SNP	G	G	T	rs149364876	byFrequency	TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:2116020G>T	ENST00000380815.4	-	4	599	c.330C>A	c.(328-330)gcC>gcA	p.A110A	GMDS_ENST00000530927.1_Silent_p.A80A	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	110					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CGTGGCTCTGGGCTCCAAGGT	0.448000													7	161					2.0095e-06	2.43352e-06	1	1	0
FLRT3	23767	broad.mit.edu	37	20	14306503	14306503	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr20:14306503C>A	ENST00000378053.3	-	2	1906	c.1650G>T	c.(1648-1650)tgG>tgT	p.W550C	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.W550C|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	550					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TATGAACATACCAACACACTA	0.458000													53	124					4.86159e-25	7.68539e-25	1	1	0
TGM7	116179	broad.mit.edu	37	15	43569147	43569147	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr15:43569147G>A	ENST00000452443.2	-	12	1890	c.1886C>T	c.(1885-1887)aCc>aTc	p.T629I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	629					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTTGGTGAGGGTGACATGGAC	0.567000													27	35					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141643728	141643728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:141643728C>A	ENST00000389484.3	-	24	4914	c.3943G>T	c.(3943-3945)Gga>Tga	p.G1315*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1315					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAAGCTTTCCCCGGTATATT	0.303000										TSP Lung(27;0.18)			14	30					0.000308642	0.000348211	1	1	0
STK11	6794	broad.mit.edu	37	19	1220487	1220487	+	Missense_Mutation	SNP	G	G	T	rs121913315		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:1220487G>T	ENST00000326873.7	+	4	1753	c.580G>T	c.(580-582)Gac>Tac	p.D194Y		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	194	Protein kinase.		D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677000	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	4					0.150653	0.154157	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9154749	9154749	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:9154749C>G	ENST00000382496.5	-	12	1997	c.1332G>C	c.(1330-1332)ttG>ttC	p.L444F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	444	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTCTTCCAGCAAACAGCTGC	0.547000													16	137					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934621	44934621	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:44934621A>T	ENST00000291187.4	-	6	639	c.317T>A	c.(316-318)gTg>gAg	p.V106E	ZNF229_ENST00000588931.1_Missense_Mutation_p.V112E|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTCACCTGCCACCTCTTCCCA	0.443000													30	57					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184186	55184186	+	Missense_Mutation	SNP	T	T	C	rs142496479		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:55184186T>C	ENST00000337714.3	+	2	1594	c.1361T>C	c.(1360-1362)aTc>aCc	p.I454T	AKAP1_ENST00000314126.3_Missense_Mutation_p.I454T|AKAP1_ENST00000572557.1_Missense_Mutation_p.I454T|AKAP1_ENST00000539273.1_Missense_Mutation_p.I454T|AKAP1_ENST00000571629.1_Missense_Mutation_p.I454T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	454					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGCCAAATATCTCTGCACAC	0.602000													23	104					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288951	33288951	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:33288951C>T	ENST00000374542.5	-	3	805	c.601G>A	c.(601-603)Gag>Aag	p.E201K	DAXX_ENST00000266000.6_Missense_Mutation_p.E201K|DAXX_ENST00000414083.2_Missense_Mutation_p.E126K|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	201					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CGCCGGATCTCTGCCACATAG	0.582000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	27					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154802	5154802	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:5154802G>T	ENST00000252321.3	+	1	1718	c.1489G>T	c.(1489-1491)Ggc>Tgc	p.G497C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	497						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAAGATCGTGGGCTCGCTGTG	0.597000													28	104					8.24728e-16	1.2301e-15	1	1	0
C2orf49	79074	broad.mit.edu	37	2	105959428	105959428	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:105959428G>A	ENST00000258457.2	+	3	619	c.390G>A	c.(388-390)ccG>ccA	p.P130P	C2orf49_ENST00000437250.2_Silent_p.P168P|C2orf49_ENST00000410049.1_Silent_p.P130P			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	130						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AGCCTCCCCCGCAGGCAAGCT	0.393000													19	82					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325147	57325147	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:57325147C>A	ENST00000326441.9	-	10	5026	c.4663G>T	c.(4663-4665)Ggt>Tgt	p.G1555C	PEG3_ENST00000593695.1_Missense_Mutation_p.G1429C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1431C|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1555C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1555					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)		TGATTGGCACCACCTGTGCTG	0.522000													31	71					7.01153e-11	9.74234e-11	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34150217	34150217	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:34150217T>C	ENST00000346193.3	-	1	230	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	60								p.Y60C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGGACAGCCGTAGCGGAAGTC	0.562000													43	67					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94401017	94401017	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:94401017G>A	ENST00000555019.1	-	10	2323	c.1893C>T	c.(1891-1893)taC>taT	p.Y631Y	ASB2_ENST00000315988.4_Silent_p.Y583Y	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	583					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGGTGTTCTCGTATTTCAGGT	0.542000													10	48					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977588	12977588	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:12977588G>A	ENST00000273221.4	-	3	1186	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	324					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGACGGCCGGTCCCCTGCC	0.667000													16	49					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767986	150767986	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:150767986C>T	ENST00000485713.1	+	12	2777	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	SLC4A2_ENST00000392826.2_Silent_p.L570L|SLC4A2_ENST00000413384.2_Silent_p.L579L|SLC4A2_ENST00000310317.5_Silent_p.L497L|SLC4A2_ENST00000461735.1_Silent_p.L565L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	579					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCCACCCTCATGTCAGACA	0.622000													7	56					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57095848	57095848	+	Silent	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:57095848G>T	ENST00000278412.2	-	13	1800	c.1534C>A	c.(1534-1536)Cgg>Agg	p.R512R		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	512	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTCTCATCCCGGTCACTGTCA	0.567000													21	51					2.32416e-17	3.56731e-17	1	1	0
KCNK10	54207	broad.mit.edu	37	14	88729651	88729651	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:88729651C>T	ENST00000340700.5	-	2	733	c.282G>A	c.(280-282)gaG>gaA	p.E94E	KCNK10_ENST00000319231.5_Silent_p.E99E|KCNK10_ENST00000312350.5_Silent_p.E99E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	94					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAAAGGGCTGCTCCAATGCCC	0.567000													5	90					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465083	70465083	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:70465083C>G	ENST00000503640.1	-	2	800	c.745G>C	c.(745-747)Ggg>Cgg	p.G249R	UGT2A2_ENST00000457664.2_Missense_Mutation_p.G258R|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.G249R|UGT2A1_ENST00000286604.4_Missense_Mutation_p.G293R|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G459R	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	249					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAGCTTTCCCCATAGTCTCA	0.388000													13	72					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206480	49206480	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:49206480C>T	ENST00000425340.2	+	2	384	c.267C>T	c.(265-267)aaC>aaT	p.N89N	FUT2_ENST00000391876.4_Silent_p.N89N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	89					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CCAAGATGAACGGGCGGCCCG	0.657000													5	36					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168343	64168343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:64168343G>A	ENST00000395391.1	+	4	3036	c.1661G>A	c.(1660-1662)tGt>tAt	p.C554Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.C554Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.C554Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCCTACAAATGTGAAGAACAT	0.353000													16	76					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187576	62187576	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr20:62187576G>A	ENST00000370098.3	+	2	652	c.560G>A	c.(559-561)cGc>cAc	p.R187H	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	187										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTCAAGCACCGCCTGGTGTCT	0.647000													7	164					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165983	151165983	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:151165983G>A	ENST00000282466.3	-	4	1785	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	596	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGTAGAATGGCATGGAAGA	0.418000													19	124					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887047	3887047	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:3887047T>A	ENST00000319331.3	+	2	1483	c.722T>A	c.(721-723)cTt>cAt	p.L241H	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	241						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTGGATAGCCTTGAGAGCCTG	0.403000													39	170					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81025640	81025640	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:81025640C>A	ENST00000555265.1	-	21	3238	c.2863G>T	c.(2863-2865)Gta>Tta	p.V955L	CEP128_ENST00000281129.3_Missense_Mutation_p.V955L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	955						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGCAATTACACGGTCCTGC	0.328000													15	74					0.00074312	0.000827779	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113219572	113219572	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:113219572G>A	ENST00000401783.2	-	21	3973	c.3637C>T	c.(3637-3639)Cgt>Tgt	p.R1213C	SVEP1_ENST00000374469.1_Missense_Mutation_p.R1190C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R1213C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1213	EGF-like 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACATAACCACGCCCAAGTTGC	0.363000													11	48					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131761949	131761949	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:131761949G>T	ENST00000372577.2	+	34	3729	c.3708G>T	c.(3706-3708)gaG>gaT	p.E1236D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1236					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGTCTGTGAGACCCTCCAAG	0.547000													4	41					0.00024832	0.000282571	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19590415	19590415	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr16:19590415C>T	ENST00000438132.3	+	6	790	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Missense_Mutation_p.R248W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R159W|C16orf62_ENST00000251143.5_Missense_Mutation_p.R159W|C16orf62_ENST00000538853.1_Missense_Mutation_p.A266V|C16orf62_ENST00000448695.1_Missense_Mutation_p.R37W	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	159						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGAGAAGGTGCGGACCCGGCT	0.517000													3	33					0	0	1	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75044244	75044244	+	RNA	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:75044244G>A	ENST00000393633.2	+	0	3508																				large_intestine(1)|lung(1)	2						TTCCCGCCCAGACAGATCTGC	0.547000													10	43					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129174	83129174	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:83129174G>A	ENST00000329312.4	+	4	1495	c.1458G>A	c.(1456-1458)atG>atA	p.M486I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	486					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTACTGAAATGGAATCTGATT	0.338000													12	23					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22710812	22710812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr21:22710812G>T	ENST00000400546.1	+	8	1251	c.1002G>T	c.(1000-1002)tgG>tgT	p.W334C	NCAM2_ENST00000535285.1_Missense_Mutation_p.W359C|NCAM2_ENST00000284894.7_Missense_Mutation_p.W192C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	334	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATCACTTGGAAAAGAGCTG	0.398000													10	28					9.70103e-10	1.30004e-09	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111534	55111534	+	Silent	SNP	G	G	T	rs77217348		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:55111534G>T	ENST00000314721.2	+	1	908	c.858G>T	c.(856-858)tcG>tcT	p.S286S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAATATACTCGTTGAGACAAT	0.303000													6	47					0.00116845	0.00127467	1	1	0
NEURL1	9148	broad.mit.edu	37	10	105330838	105330838	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:105330838C>A	ENST00000369780.4	+	2	704	c.295C>A	c.(295-297)Ccg>Acg	p.P99T	NEURL_ENST00000369777.2_Missense_Mutation_p.P82T	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		99	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAGCAACCGCCCGGTCCTCAT	0.662000													22	40					8.10497e-08	1.0387e-07	1	1	0
GPR37	2861	broad.mit.edu	37	7	124387291	124387291	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:124387291G>A	ENST00000303921.2	-	2	1780	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	377						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTGTTGAGGAACAGTTTTC	0.483000													14	81					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	18					0.00307968	0.00334582	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29141949	29141949	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:29141949C>A	ENST00000377167.2	+	1	639	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATCACTTCTTCTGTGAAGTTC	0.453000													11	280					1.08611e-07	1.37852e-07	1	1	0
OR10K1	391109	broad.mit.edu	37	1	158436191	158436191	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:158436191C>A	ENST00000289451.2	+	1	920	c.840C>A	c.(838-840)atC>atA	p.I280I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATACACCATCCTTACCCCAT	0.393000													48	128					3.61183e-13	5.18219e-13	1	1	0
JPH1	56704	broad.mit.edu	37	8	75227431	75227431	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:75227431C>A	ENST00000342232.4	-	2	844	c.804G>T	c.(802-804)ccG>ccT	p.P268P		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	268					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGTCTTCCACCGGGCAAAAAT	0.582000													17	121					2.23348e-06	2.65604e-06	1	1	0
SULF2	55959	broad.mit.edu	37	20	46307466	46307466	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr20:46307466C>A	ENST00000359930.4	-	8	1998	c.1147G>T	c.(1147-1149)Ggg>Tgg	p.G383W	SULF2_ENST00000484875.1_Missense_Mutation_p.G383W|SULF2_ENST00000467815.1_Missense_Mutation_p.G383W|SULF2_ENST00000361612.4_Missense_Mutation_p.G383W|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	383					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGATTTCCCGTCCATATCC	0.617000													52	134					1.81118e-26	2.89789e-26	1	1	0
USH2A	7399	broad.mit.edu	37	1	216595563	216595563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:216595563C>A	ENST00000366943.2	-	2	502	c.116G>T	c.(115-117)aGg>aTg	p.R39M	USH2A_ENST00000307340.3_Missense_Mutation_p.R39M|USH2A_ENST00000366942.3_Missense_Mutation_p.R39M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	39					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)		GTTCTCCAGCCTTGGGAAAAG	0.468000										HNSCC(13;0.011)			33	104					2.70662e-09	3.57274e-09	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													4	29					1	1	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458125	248458125	+	Silent	SNP	A	A	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:248458125A>G	ENST00000317996.1	-	1	755	c.756T>C	c.(754-756)gcT>gcC	p.A252A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TAAAAATGCCAGCTCCATAAA	0.498000													18	161					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405857	55405857	+	Silent	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:55405857T>A	ENST00000314612.2	+	1	24	c.24T>A	c.(22-24)acT>acA	p.T8T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATAATAGCACTTTGTTTATTC	0.323000													18	152					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066318	70066318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:70066318C>A	ENST00000446444.1	-	6	1438	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	477					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCTGCAACTCGAAGGTGTTT	0.458000													37	135					6.19805e-25	9.73979e-25	1	1	0
DAPK1	1612	broad.mit.edu	37	9	90321495	90321495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:90321495G>T	ENST00000469640.2	+	27	3959	c.3584G>T	c.(3583-3585)tGg>tTg	p.W1195L	DAPK1_ENST00000358077.5_Missense_Mutation_p.W1170L|DAPK1_ENST00000472284.1_Missense_Mutation_p.W1170L|DAPK1_ENST00000491893.1_Missense_Mutation_p.W1104L|DAPK1_ENST00000408954.3_Missense_Mutation_p.W1170L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1170					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATCCGCCTGTGGGTGAATGGC	0.647000									Chronic Lymphocytic Leukemia, Familial Clustering of				7	29					0.0293803	0.0306577	1	1	0
COL21A1	81578	broad.mit.edu	37	6	56047371	56047371	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:56047371G>T	ENST00000244728.5	-	2	443	c.46C>A	c.(46-48)Ctt>Att	p.L16I	COL21A1_ENST00000370819.1_Missense_Mutation_p.L16I|COL21A1_ENST00000535941.1_Missense_Mutation_p.L16I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	16					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATTCTGAAGAAGCAGCACC	0.343000													5	11					0.014758	0.0155223	1	1	0
FLG2	388698	broad.mit.edu	37	1	152331269	152331269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:152331269C>A	ENST00000388718.5	-	2	164	c.92G>T	c.(91-93)gGt>gTt	p.G31V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	31	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTAGTTCACCCTTGCTCAG	0.468000													13	185					7.03913e-09	9.24542e-09	1	1	0
CALCB	797	broad.mit.edu	37	11	15098897	15098897	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:15098897T>G	ENST00000523376.1	+	9	1585	c.323T>G	c.(322-324)cTg>cGg	p.L108R	CALCB_ENST00000324229.6_Missense_Mutation_p.L97R|CALCB_ENST00000533448.1_Missense_Mutation_p.L97R			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	97					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GCAGGCTTGCTGAGCAGATCA	0.567000													13	44					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108216545	108216545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:108216545C>T	ENST00000278616.4	+	58	8879	c.8494C>T	c.(8494-8496)Cgt>Tgt	p.R2832C	ATM_ENST00000452508.2_Missense_Mutation_p.R2832C|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2832	PI3K/PI4K.		R -> C (in AT and B-cell non-Hodgkin lymphoma).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R2832C(4)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCAGTTTTCCGTTACTTCTG	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			43	132					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68152514	68152514	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:68152514C>A	ENST00000262215.3	-	20	3251	c.2862G>T	c.(2860-2862)acG>acT	p.T954T	ARFGEF1_ENST00000520381.1_Silent_p.T408T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	954					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCAGAAAAGGCGTCCAAGCCA	0.328000													26	89					4.72057e-08	6.10898e-08	1	1	0
COPB1	1315	broad.mit.edu	37	11	14482762	14482762	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:14482762C>T	ENST00000249923.3	-	19	2826	c.2526G>A	c.(2524-2526)caG>caA	p.Q842Q	COPB1_ENST00000439561.2_Silent_p.Q842Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	842					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CGGCCCACATCTGACGGAATT	0.433000													24	116					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324758	7324758	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:7324758G>A	ENST00000323675.3	+	3	789	c.764G>A	c.(763-765)cGc>cAc	p.R255H	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	255					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCCCGGCACCGCTCCTCAGGC	0.677000													17	26					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120575254	120575254	+	Splice_Site	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:120575254C>A	ENST00000427067.2	-	25	2508		c.e25-1		ENPP2_ENST00000522826.1_Splice_Site|ENPP2_ENST00000075322.6_Splice_Site|ENPP2_ENST00000522167.1_Splice_Site|ENPP2_ENST00000259486.6_Splice_Site			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCCACGTACCTGAAACAGGA	0.428000													10	44					1.58986e-06	1.94317e-06	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100095520	100095520	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:100095520G>A	ENST00000524871.1	+	16	2271	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CNTN5_ENST00000527185.1_Missense_Mutation_p.D661N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D661N|CNTN5_ENST00000418526.2_Missense_Mutation_p.D587N|CNTN5_ENST00000279463.3_Missense_Mutation_p.D661N|CNTN5_ENST00000524560.1_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	661					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTGTGTCAGATGAGGCAGA	0.433000													11	63					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14782594	14782594	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr18:14782594G>T	ENST00000358984.4	+	12	1731	c.1551G>T	c.(1549-1551)gaG>gaT	p.E517D	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E517D|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	517										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGTAATGGAGATAAATAGAG	0.313000													6	20					0.248553	0.251409	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78921115	78921115	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:78921115A>G	ENST00000306801.3	+	27	3591	c.3229A>G	c.(3229-3231)Aac>Gac	p.N1077D	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N919D	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1077					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGAGTATCTGAACGGCCAGGA	0.582000													9	40					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905940	76905940	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:76905940G>A	ENST00000380887.2	+	2	316	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	ESRRB_ENST00000261532.7_Missense_Mutation_p.G82S|ESRRB_ENST00000509242.1_Missense_Mutation_p.G82S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.G82S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGTGCCAGCGGCATCATGGA	0.647000													18	32					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541405	55541405	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:55541405T>A	ENST00000361760.1	+	1	492	c.492T>A	c.(490-492)ttT>ttA	p.F164L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCACATATTTTCTTCTTGACT	0.423000													44	174					0	0	1	0	0
IGFBP2	3485	broad.mit.edu	37	2	217528817	217528817	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:217528817G>C	ENST00000233809.4	+	4	1097	c.968G>C	c.(967-969)cGg>cCg	p.R323P	IGFBP2_ENST00000456764.1_Missense_Mutation_p.R179P	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	323					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CACACCCAGCGGATGCAGTAG	0.677000													7	12					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121699858	121699858	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:121699858C>T	ENST00000393386.2	+	29	7134	c.6723C>T	c.(6721-6723)caC>caT	p.H2241H	PTPRZ1_ENST00000449182.1_Silent_p.H1374H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2241	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCTTATGCACCAACTAGAAA	0.428000													52	95					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131171	147131171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:147131171C>A	ENST00000282928.4	+	3	1906	c.1177C>A	c.(1177-1179)Cct>Act	p.P393T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	393	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGGCTCGCAGCCTTCGCCGGC	0.617000													12	81					1.08611e-07	1.37852e-07	1	1	0
CUBN	8029	broad.mit.edu	37	10	16877175	16877175	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:16877175G>T	ENST00000377833.4	-	64	10265	c.10200C>A	c.(10198-10200)caC>caA	p.H3400Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3400	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAATGCCTTGTGATAGTCTC	0.423000													18	77					1.67942e-08	2.19488e-08	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2084151	2084151	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:2084151G>T	ENST00000382203.1	+	17	2690	c.2481G>T	c.(2479-2481)ttG>ttT	p.L827F	SMARCA2_ENST00000382194.1_Missense_Mutation_p.L827F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L827F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L827F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	827	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATGTCCTCTTGACTACTTATG	0.388000													16	30					5.35267e-07	6.69718e-07	1	1	0
NALCN	259232	broad.mit.edu	37	13	101717842	101717842	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr13:101717842G>T	ENST00000251127.6	-	40	4599	c.4518C>A	c.(4516-4518)gaC>gaA	p.D1506E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1506						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTGTCCTTGTCCAGGTCCA	0.582000													19	102					1.33834e-09	1.78445e-09	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													4	29					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18827197	18827197	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:18827197C>A	ENST00000396576.2	+	12	1727	c.1226C>A	c.(1225-1227)aCc>aAc	p.T409N	CACNB2_ENST00000377329.4_Missense_Mutation_p.T410N|CACNB2_ENST00000377315.4_Missense_Mutation_p.T416N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.T436N|CACNB2_ENST00000377319.3_Missense_Mutation_p.T371N|CACNB2_ENST00000352115.6_Missense_Mutation_p.T440N|CACNB2_ENST00000377331.2_Missense_Mutation_p.T412N|CACNB2_ENST00000377328.1_Missense_Mutation_p.T214N|CACNB2_ENST00000324631.7_Missense_Mutation_p.T464N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	464					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGAAGGCCACCCATCCTCCC	0.557000													81	140					5.04879e-28	8.12732e-28	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160259586	160259586	+	Silent	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:160259586A>T	ENST00000264431.4	+	12	2195	c.1776A>T	c.(1774-1776)tcA>tcT	p.S592S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	592					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TATTGCAGTCACATCATCGCA	0.378000													21	75					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765957	77765957	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:77765957C>A	ENST00000521891.2	+	10	7248	c.6800C>A	c.(6799-6801)aCc>aAc	p.T2267N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2241N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2222N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2222N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCTGCCTACCCGGGTTATT	0.398000										HNSCC(33;0.089)			6	36					0.0293803	0.0306577	1	1	0
KLF15	28999	broad.mit.edu	37	3	126062589	126062589	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:126062589G>A	ENST00000296233.3	-	3	1462	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	411						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAGCGCACGGAGCGGCTGCT	0.592000													12	29					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215345388	215345388	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:215345388T>C	ENST00000444842.2	+	5	835	c.685T>C	c.(685-687)Ttt>Ctt	p.F229L	KCNK2_ENST00000391894.2_Missense_Mutation_p.F214L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F225L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	229							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AACAATCATATTTATACTATT	0.388000													43	136					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457594	41457594	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr21:41457594T>C	ENST00000400454.1	-	23	4544	c.4067A>G	c.(4066-4068)tAt>tGt	p.Y1356C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1356	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAGCTGTAATAGCCGGAGTC	0.413000													13	90					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98250950	98250950	+	Missense_Mutation	SNP	A	A	G	rs145928800		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:98250950A>G	ENST00000284311.3	+	1	208	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	25						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CATCAGGGAGACCCACTCCCA	0.478000													15	39					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156536336	156536336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:156536336C>T	ENST00000361170.2	-	3	138	c.128G>A	c.(127-129)tGg>tAg	p.W43*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	43	CH.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCTCCATCCAGCTATGAAC	0.547000													15	39					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077592	9077592	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:9077592A>T	ENST00000397910.4	-	3	10057	c.9854T>A	c.(9853-9855)cTc>cAc	p.L3285H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3286	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGGGGAGAGGGAGACCCT	0.542000													35	86					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306716	2306716	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:2306716C>A	ENST00000290974.2	-	8	1690	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A421S|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A381S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	451					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TTTTCCGAGGCGGGCAAGCTG	0.682000													10	89					3.86212e-05	4.4524e-05	1	1	0
NYX	60506	broad.mit.edu	37	X	41333694	41333694	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:41333694C>G	ENST00000342595.2	+	2	1444	c.988C>G	c.(988-990)Cgc>Ggc	p.R330G	NYX_ENST00000378220.1_Missense_Mutation_p.R330G	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	330					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCTGGGCCGCCTCTTCCT	0.687000													17	24					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192069	125192069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:125192069G>T	ENST00000431078.1	+	5	902	c.538G>T	c.(538-540)Gtt>Ttt	p.V180F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	180	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGAATCAGATGTTGCTGACTT	0.418000													20	68					1.40151e-16	2.12643e-16	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54676209	54676209	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:54676209G>A	ENST00000474759.1	+	11	1156	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D370N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D370N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D276N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	370	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTCATAACTGATGGGGCGGT	0.438000													4	21					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33139582	33139582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:33139582G>A	ENST00000341947.2	-	42	3285	c.3058C>T	c.(3058-3060)Cga>Tga	p.R1020*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R994*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R999*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.R934*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R913*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R960*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R973*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R939*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1020	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTGCACCTCGTTCCCCAGGG	0.632000													15	17					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874864	20874864	+	RNA	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr15:20874864G>T	ENST00000556948.1	-	0	384																											ATTTTAAGGTGTGCATTATCT	0.343000													7	38					2.61681e-11	3.67468e-11	1	1	0
ALG9	79796	broad.mit.edu	37	11	111709090	111709090	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:111709090G>C	ENST00000398006.2	-	11	1580	c.672C>G	c.(670-672)caC>caG	p.H224Q	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.H231Q	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	395					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GAAACACAAAGTGGTAACATT	0.378000													11	43					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626572	80626572	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:80626572G>T	ENST00000369816.4	-	6	998	c.698C>A	c.(697-699)aCg>aAg	p.T233K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	233					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGACAGTGCCGTGTGCCCAAT	0.398000													13	63					2.27111e-07	2.86877e-07	1	1	0
TPK1	27010	broad.mit.edu	37	7	144463003	144463003	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:144463003C>G	ENST00000360057.3	-	3	187	c.85G>C	c.(85-87)Gac>Cac	p.D29H	TPK1_ENST00000378099.3_Missense_Mutation_p.D29H	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	29					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAATAGTTGTCCAAAGGCTGA	0.318000													28	78					0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57206783	57206783	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr16:57206783C>T	ENST00000309137.8	-	3	389	c.131G>A	c.(130-132)tGt>tAt	p.C44Y	FAM192A_ENST00000564108.1_Missense_Mutation_p.C44Y|FAM192A_ENST00000567439.1_Missense_Mutation_p.C44Y|FAM192A_ENST00000569266.1_Missense_Mutation_p.C44Y|FAM192A_ENST00000389447.5_Missense_Mutation_p.C44Y|FAM192A_ENST00000566077.1_5'UTR	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	44						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTCCTCTGGACATTCTGAAAG	0.423000													17	65					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876809	139876809	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:139876809A>G	ENST00000297183.6	+	15	3074	c.2950A>G	c.(2950-2952)Atg>Gtg	p.M984V	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Missense_Mutation_p.M984V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M984V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGGACTAATGGTTGCAAC	0.418000													80	142					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171221	153171221	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:153171221C>A	ENST00000358927.2	+	3	470	c.261C>A	c.(259-261)gcC>gcA	p.A87A	AVPR2_ENST00000337474.5_Silent_p.A87A|AVPR2_ENST00000370049.1_Silent_p.A87A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	87					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.A87A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGACCTGGCCGTGGCTCTGT	0.682000													14	44					1.52009e-12	2.16921e-12	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5476138	5476138	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:5476138G>T	ENST00000296564.7	+	17	6688	c.6466G>T	c.(6466-6468)Gca>Tca	p.A2156S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2156										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAAGGACATGCAAACATTGC	0.318000													3	35					0.014758	0.0155223	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13735916	13735916	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:13735916C>T	ENST00000357447.2	-	15	1467	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	FRMD4A_ENST00000342409.2_Missense_Mutation_p.G383S|FRMD4A_ENST00000378503.1_Missense_Mutation_p.G367S|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.G352S	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	367						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGCAGGCTGCCGCTGCTGCCG	0.647000													5	33					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735811	55735811	+	Missense_Mutation	SNP	G	G	T	rs147274300		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:55735811G>T	ENST00000312345.2	-	1	179	c.129C>A	c.(127-129)caC>caA	p.H43Q		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GGAGAGCGGGGTGAATTTTTA	0.333000													13	82					1.36491e-13	1.97987e-13	1	1	0
TTC29	83894	broad.mit.edu	37	4	147796023	147796023	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:147796023C>A	ENST00000513335.1	-	8	921	c.722G>T	c.(721-723)cGg>cTg	p.R241L	TTC29_ENST00000325106.4_Missense_Mutation_p.R215L|TTC29_ENST00000398886.4_Missense_Mutation_p.R241L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	215							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTCCATATCCGCCCCTGTGT	0.448000													7	30					2.0095e-06	2.43352e-06	1	1	0
TMEM241	85019	broad.mit.edu	37	18	20945620	20945620	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr18:20945620C>A	ENST00000383233.3	-	11	631	c.579G>T	c.(577-579)ctG>ctT	p.L193L	TMEM241_ENST00000450466.2_Silent_p.L72L|TMEM241_ENST00000542162.1_3'UTR	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	193						integral to membrane											ATGCAAATGCCAGGAGCACCA	0.468000													8	28					0.00448238	0.00484979	1	1	0
ZNF317	57693	broad.mit.edu	37	19	9271173	9271173	+	Silent	SNP	A	A	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:9271173A>G	ENST00000247956.6	+	7	1157	c.852A>G	c.(850-852)ggA>ggG	p.G284G	ZNF317_ENST00000360385.3_Silent_p.G252G	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GTCAGTGTGGAAATGCATTCC	0.562000													7	80					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16021851	16021851	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr20:16021851G>T	ENST00000217246.4	+	16	1554	c.1159G>T	c.(1159-1161)Ggc>Tgc	p.G387C	MACROD2_ENST00000402914.1_Missense_Mutation_p.G152C|MACROD2_ENST00000310348.4_Missense_Mutation_p.G387C|MACROD2_ENST00000407045.3_Missense_Mutation_p.G38C|MACROD2_ENST00000378058.3_Missense_Mutation_p.G152C	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	387	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCCAGCTCCAGGCGAGGACAC	0.478000													13	33					0.00010058	0.000114948	1	1	0
POU2AF1	5450	broad.mit.edu	37	11	111229611	111229611	+	Silent	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:111229611G>T	ENST00000393067.3	-	2	563	c.49C>A	c.(49-51)Cgg>Agg	p.R17R		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	17					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TGGTATGGCCGGGCCGGGGCT	0.647000			T	BCL6	NHL								7	20					5.18039e-06	6.13284e-06	1	1	0
KIF21A	55605	broad.mit.edu	37	12	39713809	39713809	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:39713809C>A	ENST00000395670.3	-	27	4097	c.3678G>T	c.(3676-3678)agG>agT	p.R1226S	KIF21A_ENST00000361418.5_Missense_Mutation_p.R1226S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1213S|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1206S|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1190S|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1226					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAGATGACTGCCTGGAACTAA	0.323000													5	20					0.00116845	0.00127467	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177114137	177114137	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:177114137C>G	ENST00000280191.2	-	3	547	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	147					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GTGTAAACCTCTTCTATCAAT	0.284000													4	52					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22257741	22257741	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:22257741C>T	ENST00000324559.8	+	8	998	c.681C>T	c.(679-681)ggC>ggT	p.G227G		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	227						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTTTTGGCATAGAAGATG	0.378000													10	62					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784858	82784858	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:82784858C>G	ENST00000423517.2	-	2	1436	c.1099G>C	c.(1099-1101)Ggt>Cgt	p.G367R	PCLO_ENST00000333891.8_Missense_Mutation_p.G367R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	327	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAGCAGGACCAAGAGGCTGA	0.577000													16	39					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22412384	22412384	+	Silent	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:22412384G>C	ENST00000240123.7	+	3	494	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SORBS3_ENST00000523402.1_Silent_p.V37V	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	37					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGTGCCCGTGATCCGGAATG	0.657000													23	53					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812686	141812686	+	Splice_Site	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:141812686T>A	ENST00000389484.3	-	10	2522	c.1552_splice	c.e10+1	p.K517_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	517					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAACATACTTTTGCATGACC	0.418000										TSP Lung(27;0.18)			26	41					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114329890	114329890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:114329890C>A	ENST00000408937.3	+	18	2506	c.2132C>A	c.(2131-2133)cCa>cAa	p.P711Q	FOXP2_ENST00000350908.4_Missense_Mutation_p.P686Q|FOXP2_ENST00000393494.2_Missense_Mutation_p.P686Q|FOXP2_ENST00000403559.4_Missense_Mutation_p.P703Q|FOXP2_ENST00000393498.2_Missense_Mutation_p.P665Q|FOXP2_ENST00000393489.3_Missense_Mutation_p.P594Q|FOXP2_ENST00000393491.3_Missense_Mutation_p.P501Q	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	686					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACTGCCCAATGTCCTTA	0.398000													44	82					2.24893e-16	3.39268e-16	1	1	0
PPEF1	5475	broad.mit.edu	37	X	18845481	18845481	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:18845481A>T	ENST00000361511.4	+	19	2332	c.1838A>T	c.(1837-1839)aAg>aTg	p.K613M	PPEF1_ENST00000349874.5_Missense_Mutation_p.K551M|PPEF1_ENST00000544635.1_Missense_Mutation_p.K548M|PPEF1_ENST00000359763.6_Missense_Mutation_p.K560M|PPEF1_ENST00000543630.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	613	EF-hand 3.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAAGTCAATAAGCTTGCCAAC	0.353000													25	121					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913358	136913358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:136913358C>A	ENST00000359015.4	-	23	3538	c.3178G>T	c.(3178-3180)Gaa>Taa	p.E1060*	MAP3K5_ENST00000355845.4_Nonsense_Mutation_p.E307*	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1060					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTTGGTCTTCCGTCAGGATC	0.448000													31	167					2.80507e-11	3.9182e-11	1	1	0
DHX57	90957	broad.mit.edu	37	2	39082376	39082376	+	Silent	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:39082376T>C	ENST00000295373.6	-	8	1854	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	576	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACTGCGGAATTTGTGTGGTTT	0.393000													95	95					0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89319009	89319009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:89319009C>A	ENST00000370500.5	-	7	956	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	280					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACATCAGCAACACCAGCAATA	0.398000													9	131					0.000274275	0.000310767	1	1	0
AKAP1	8165	broad.mit.edu	37	17	55184187	55184187	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:55184187C>A	ENST00000337714.3	+	2	1595	c.1362C>A	c.(1360-1362)atC>atA	p.I454I	AKAP1_ENST00000314126.3_Silent_p.I454I|AKAP1_ENST00000572557.1_Silent_p.I454I|AKAP1_ENST00000539273.1_Silent_p.I454I|AKAP1_ENST00000571629.1_Silent_p.I454I	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	454					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGCCAAATATCTCTGCACACC	0.607000													24	104					4.26978e-12	6.06033e-12	1	1	0
KRT6A	3853	broad.mit.edu	37	12	52882330	52882330	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:52882330G>A	ENST00000330722.6	-	7	1274	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	402	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGTTGGCGCACTGGAAGA	0.562000													7	67					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458124	248458124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:248458124C>A	ENST00000317996.1	-	1	756	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GTAAAAATGCCAGCTCCATAA	0.498000													20	164					2.59497e-14	3.80596e-14	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20528431	20528431	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:20528431C>A	ENST00000315683.1	+	1	228	c.228C>A	c.(226-228)gcC>gcA	p.A76A		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A76A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCTCCACTGCCACAACACCCA	0.468000													49	124					2.43468e-25	3.87202e-25	1	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459082	45459082	+	RNA	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:45459082C>A	ENST00000548424.1	+	0	448																											AATCTCCGCCCCGCGCACAAG	0.478000													11	34					1.58986e-06	1.94317e-06	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131024843	131024843	+	Splice_Site	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:131024843T>A	ENST00000421699.2	-	13	1064	c.1053_splice	c.e13+1	p.Q351_splice		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	351						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCCTCTTGCCTGTTGAAGCAG	0.562000													9	31					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743534	147743534	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:147743534G>C	ENST00000370460.2	+	3	765	c.286G>C	c.(286-288)Gga>Cga	p.G96R	AFF2_ENST00000370457.5_Missense_Mutation_p.G92R|AFF2_ENST00000370458.1_Missense_Mutation_p.G92R|AFF2_ENST00000342251.3_Missense_Mutation_p.G92R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	96					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTAGTGGGAATTCCAAA	0.398000													47	246					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17130212	17130212	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:17130212C>A	ENST00000377833.4	-	15	1963	c.1898G>T	c.(1897-1899)gGg>gTg	p.G633V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	633	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTCAAGGTCCCAAAAGTAAA	0.408000													11	69					6.40141e-05	7.34771e-05	1	1	0
GBE1	2632	broad.mit.edu	37	3	81695601	81695601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:81695601C>A	ENST00000429644.2	-	6	1367	c.724G>T	c.(724-726)Gag>Tag	p.E242*	GBE1_ENST00000489715.1_Nonsense_Mutation_p.E201*	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	242					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TAAGCATGCTCCATGATTGCC	0.353000									Glycogen Storage Disease, type IV				13	70					4.36969e-10	5.97719e-10	1	1	0
LPXN	9404	broad.mit.edu	37	11	58317454	58317454	+	Missense_Mutation	SNP	T	T	C	rs140764119		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:58317454T>C	ENST00000528954.1	-	6	786	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000395074.2_Missense_Mutation_p.I218V	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	218	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATCCAGGATGGGAGCAGCG	0.493000													5	110					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102036967	102036967	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:102036967C>A	ENST00000496391.1	+	5	1419	c.109C>A	c.(109-111)Cgg>Agg	p.R37R	PRKRIP1_ENST00000482465.1_Intron|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Silent_p.R37R|PRKRIP1_ENST00000354783.4_5'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	37	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CAAGCTGGAGCGGCTCATGAA	0.677000													14	40					1.49906e-05	1.7589e-05	1	1	0
TMEM59L	25789	broad.mit.edu	37	19	18724997	18724997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:18724997G>T	ENST00000600490.1	+	4	585	c.400G>T	c.(400-402)Gag>Tag	p.E134*	TMEM59L_ENST00000262817.3_Nonsense_Mutation_p.E134*			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	134						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCCTGAGCCGGAGCAGAAGGT	0.652000													5	6					5.9392e-07	7.36126e-07	1	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43663575	43663575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr15:43663575C>A	ENST00000564079.1	+	1	263	c.23C>A	c.(22-24)gCt>gAt	p.A8D	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8D|TUBGCP4_ENST00000570081.1_Intron	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	8					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.A8D(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGCTCTTGGCTCTGAGCGGG	0.652000											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0.115264	0.118866	1	1	0
ASIC2	40	broad.mit.edu	37	17	32483155	32483155	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:32483155C>T	ENST00000359872.6	-	1	1158	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	133					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCTCCAGCACGGAGGGGTCA	0.612000													42	72					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826287	21826287	+	RNA	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:21826287G>C	ENST00000426869.3	+	0	470					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		GCCCTGTCATGGTGGCCTCTC	0.562000													5	47					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026732	37026732	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:37026732C>T	ENST00000358047.3	+	1	301	c.249C>T	c.(247-249)ctC>ctT	p.L83L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	83										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAATATCTCTCAGAGGTCCCC	0.542000													50	64					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22770675	22770675	+	Silent	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:22770675G>C	ENST00000454584.2	+	6	788	c.483G>C	c.(481-483)gtG>gtC	p.V161V	GAS2_ENST00000433790.1_Silent_p.V161V|GAS2_ENST00000278187.3_Silent_p.V161V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	161					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GGTATGGTGTGGAGCCTCCTG	0.383000													16	53					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785415	22785415	+	RNA	SNP	T	T	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:22785415T>G	ENST00000600260.1	+	0	1504					NR_033899.1																						AGCTGCTTTATGCAGCTGATG	0.567000													11	86					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35756932	35756932	+	Splice_Site	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:35756932C>T	ENST00000187397.4	+	12	1355	c.897_splice	c.e12-1	p.S300_splice	ARPP21_ENST00000417925.1_Splice_Site_p.S266_splice|ARPP21_ENST00000337271.5_Splice_Site_p.S266_splice|ARPP21_ENST00000458225.1_Splice_Site_p.S266_splice|ARPP21_ENST00000444190.1_Splice_Site_p.S266_splice	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	300						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATTTTTCAGTCAGTTTGCTCC	0.378000													14	63					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068156	190068156	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:190068156G>A	ENST00000367462.3	-	8	1524	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	FAM5C_ENST00000534846.1_Silent_p.D329D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		431						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGACCACCTGGTCATTCGGAC	0.597000													10	95					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44068350	44068350	+	Splice_Site	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr15:44068350C>T	ENST00000319359.3	-	3	810		c.e3-1		RP11-296A16.1_ENST00000417761.2_Splice_Site	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3						positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTCTCAGATACTGGGGGTGGA	0.617000													16	15					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915203	176915203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:176915203G>T	ENST00000367654.2	-	13	2145	c.2132C>A	c.(2131-2133)aCg>aAg	p.T711K	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T703K|ASTN1_ENST00000361833.2_Missense_Mutation_p.T703K|ASTN1_ENST00000367657.3_Missense_Mutation_p.T703K			O14525	ASTN1_HUMAN	astrotactin 1	711					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACAGGTCTCCGTGATGAGTTG	0.502000													45	112					2.45108e-15	3.63531e-15	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862800	10862800	+	RNA	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr21:10862800G>T	ENST00000559480.1	+	0	96																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGGTGAAGAAGCCTGGGGCCT	0.567000													24	130					1.64293e-13	2.37013e-13	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2170433	2170433	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:2170433A>G	ENST00000382203.1	+	29	4423	c.4214A>G	c.(4213-4215)aAg>aGg	p.K1405R	SMARCA2_ENST00000382194.1_Intron|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K1405R|SMARCA2_ENST00000302401.3_Intron|SMARCA2_ENST00000382186.1_Missense_Mutation_p.K69R|SMARCA2_ENST00000324954.5_Intron|SMARCA2_ENST00000357248.2_Intron|SMARCA2_ENST00000382185.1_Intron			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1405					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AACGTGGAGAAGGTGCCCAGT	0.498000													43	54					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41555615	41555615	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:41555615C>A	ENST00000396942.1	-	24	2666	c.2583G>T	c.(2581-2583)agG>agT	p.R861S	ANK1_ENST00000289734.7_Missense_Mutation_p.R861S|ANK1_ENST00000352337.4_Missense_Mutation_p.R861S|ANK1_ENST00000379758.2_Missense_Mutation_p.R861S|ANK1_ENST00000347528.4_Missense_Mutation_p.R861S|ANK1_ENST00000265709.8_Missense_Mutation_p.R902S|ANK1_ENST00000396945.1_Missense_Mutation_p.R861S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	861					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACAGGGAATCCTGGGGATGG	0.557000													4	48					0.150653	0.154157	1	1	0
ZNF8	7554	broad.mit.edu	37	19	58806340	58806340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:58806340G>T	ENST00000196548.5	+	4	1297	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTGCACCTGAGAACTCACACC	0.612000													22	80					3.8784e-16	5.81761e-16	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274235	39274235	+	Silent	SNP	G	G	A	rs11654403	by1000genomes	TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:39274235G>A	ENST00000391413.2	-	1	371	c.333C>T	c.(331-333)cgC>cgT	p.R111R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	111	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R111R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagctggggcgacagcagc	0.652000													4	25					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66230805	66230805	+	Silent	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:66230805T>A	ENST00000273854.3	-	12	2766	c.2166A>T	c.(2164-2166)ctA>ctT	p.L722L	EPHA5_ENST00000511294.1_Silent_p.L723L|EPHA5_ENST00000354839.4_Silent_p.L700L|EPHA5_ENST00000432638.2_Silent_p.L559L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	722	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTGCTTCACCTAGGAAATCTC	0.388000										TSP Lung(17;0.13)			35	153					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40716957	40716957	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:40716957A>C	ENST00000372766.3	+	2	333	c.240A>C	c.(238-240)aaA>aaC	p.K80N	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	80						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CATTTTAGAAAACATTGTTGT	0.343000													16	123					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304394	10304394	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:10304394C>T	ENST00000403437.2	-	25	3317	c.3223G>A	c.(3223-3225)Gac>Aac	p.D1075N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1075					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTGTTTGTCATTTTCCATA	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	103					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102946533	102946533	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:102946533G>C	ENST00000504592.1	+	13	1834	c.1416G>C	c.(1414-1416)ttG>ttC	p.L472F	BANK1_ENST00000444316.2_Missense_Mutation_p.L457F|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Missense_Mutation_p.L354F|BANK1_ENST00000428908.1_Missense_Mutation_p.L354F|BANK1_ENST00000322953.4_Missense_Mutation_p.L487F|RP11-498M5.2_ENST00000505091.1_RNA			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	487					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATGATGACTTGTATGTGTTCA	0.498000													17	62					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66094382	66094382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:66094382C>A	ENST00000503581.1	-	8	1733	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V	EYS_ENST00000370618.3_Missense_Mutation_p.G399V|EYS_ENST00000370621.3_Missense_Mutation_p.G399V|EYS_ENST00000342421.5_Missense_Mutation_p.G399V|EYS_ENST00000370616.2_Missense_Mutation_p.G399V|EYS_ENST00000393380.2_Missense_Mutation_p.G399V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	399	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCAGTAAATCCTGATATACA	0.299000													6	30					3.59834e-05	4.18485e-05	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357602	118357602	+	Silent	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:118357602C>G	ENST00000528052.1	+	8	809	c.738C>G	c.(736-738)ccC>ccG	p.P246P	PNLIPRP1_ENST00000358834.4_Silent_p.P246P|PNLIPRP1_ENST00000534537.1_Silent_p.P246P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	246					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACTTCTTCCCCAATGGAGGAG	0.478000													33	48					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290843	5290843	+	Silent	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:5290843G>T	ENST00000380237.1	-	4	500	c.156C>A	c.(154-156)ccC>ccA	p.P52P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.P52P			P02100	HBE_HUMAN	hemoglobin, epsilon 1	52					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGGCAGAGGGAGACGACA	0.478000													37	64					2.75727e-19	4.25684e-19	1	1	0
PTCRA	171558	broad.mit.edu	37	6	42890859	42890859	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:42890859T>A	ENST00000304672.1	+	2	234	c.153T>A	c.(151-153)gaT>gaA	p.D51E	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	51						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTCCTTGATGTTGCACCCC	0.602000													9	147					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580425	82580425	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:82580425T>A	ENST00000423517.2	-	6	9816	c.9479A>T	c.(9478-9480)gAt>gTt	p.D3160V	PCLO_ENST00000333891.8_Missense_Mutation_p.D3160V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3091	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCACTGATATCAATACCAGT	0.428000													3	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581620	82581620	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:82581620C>A	ENST00000423517.2	-	5	8986	c.8649G>T	c.(8647-8649)tgG>tgT	p.W2883C	PCLO_ENST00000333891.8_Missense_Mutation_p.W2883C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2814					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTATCAGTCCATCCATTTG	0.453000													37	99					6.53348e-20	1.01461e-19	1	1	0
ZFAS1	441951	broad.mit.edu	37	20	47896877	47896877	+	RNA	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr20:47896877G>A	ENST00000450535.1	+	0	644				ZFAS1_ENST00000441722.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000371743.3_RNA																							TGATGACTTAGCTTTTTTCCC	0.428000													10	41					0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578442	85578442	+	RNA	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:85578442C>G	ENST00000590707.1	+	0	165					NR_003719.2																						AAGTTTTTCTCAACCATAAGT	0.403000													9	14					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102932	113102932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:113102932G>A	ENST00000316851.7	+	10	1251	c.1251G>A	c.(1249-1251)tgG>tgA	p.W417*	NCAM1_ENST00000533760.1_Nonsense_Mutation_p.W299*|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.W426*|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	427	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGTACACTTGGGAGGGGAACC	0.517000													8	25					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74991896	74991896	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:74991896C>T	ENST00000261978.4	-	15	2847	c.2461G>A	c.(2461-2463)Ggg>Agg	p.G821R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.G821R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCTGCAATCCCCTGTTCAGGC	0.612000													10	69					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39713810	39713810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:39713810C>A	ENST00000395670.3	-	27	4096	c.3677G>T	c.(3676-3678)aGg>aTg	p.R1226M	KIF21A_ENST00000361418.5_Missense_Mutation_p.R1226M|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1213M|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1206M|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1190M|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1226					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGATGACTGCCTGGAACTAAA	0.323000													5	19					0.014758	0.0155223	1	1	0
PNKP	11284	broad.mit.edu	37	19	50370365	50370365	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:50370365G>A	ENST00000322344.3	-	2	206	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	PNKP_ENST00000596014.1_Silent_p.L33L|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.L33L|PNKP_ENST00000600910.1_Silent_p.L33L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	33					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCCCTGCCCAGGACCAGGGCT	0.706000								Other BER factors					21	62					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079593	34079593	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:34079593G>C	ENST00000254466.6	-	1	304	c.277C>G	c.(277-279)Ccc>Gcc	p.P93A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P93A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	93	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGACCCGGGGCATGGGAATC	0.627000													13	92					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138121072	138121072	+	Silent	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:138121072G>T	ENST00000289104.4	+	6	1235	c.588G>T	c.(586-588)cgG>cgT	p.R196R	MRAS_ENST00000423968.2_Silent_p.R196R|MRAS_ENST00000474559.1_Silent_p.R196R|MRAS_ENST00000464896.1_Silent_p.R120R	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	196					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGGGAGACCGGGCCACAGGCA	0.547000													4	50					1	1	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357601	118357601	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:118357601C>A	ENST00000528052.1	+	8	808	c.737C>A	c.(736-738)cCc>cAc	p.P246H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P246H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P246H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	246					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACTTCTTCCCCAATGGAGGA	0.478000													32	44					8.4185e-14	1.22789e-13	1	1	0
GLDC	2731	broad.mit.edu	37	9	6587215	6587215	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:6587215C>G	ENST00000321612.6	-	15	1926	c.1776G>C	c.(1774-1776)caG>caC	p.Q592H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	592					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGAAAAGCTGCTGATATCCTT	0.403000													29	82					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959745	70959745	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr15:70959745T>G	ENST00000322954.6	-	16	3463	c.3278A>C	c.(3277-3279)aAt>aCt	p.N1093T	UACA_ENST00000539319.1_Missense_Mutation_p.N984T|UACA_ENST00000379983.2_Missense_Mutation_p.N1080T|UACA_ENST00000560441.1_Missense_Mutation_p.N1078T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1093						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTGTTTGGCATTTTCTTCTAC	0.368000													41	76					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003063	122003063	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:122003063G>T	ENST00000498619.1	+	7	2730	c.2292G>T	c.(2290-2292)caG>caT	p.Q764H	CASR_ENST00000296154.5_Missense_Mutation_p.Q754H|CASR_ENST00000490131.1_Missense_Mutation_p.Q754H	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	754					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACCGCAACCAGGAGCTGGAGG	0.582000													15	53					2.32078e-09	3.07883e-09	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20618587	20618587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:20618587G>T	ENST00000504154.1	+	35	4154	c.3902G>T	c.(3901-3903)gGa>gTa	p.G1301V	SLIT2_ENST00000503823.1_Missense_Mutation_p.G1293V|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1314V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1297V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1301	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGCAGAACGGAACCAGCTTC	0.582000													24	49					3.10358e-05	3.62542e-05	1	1	0
SERPINA5	5104	broad.mit.edu	37	14	95053976	95053976	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:95053976G>T	ENST00000329597.7	+	3	487	c.277G>T	c.(277-279)Gag>Tag	p.E93*	SERPINA5_ENST00000553780.1_Nonsense_Mutation_p.E93*|SERPINA5_ENST00000554866.1_Nonsense_Mutation_p.E93*|SERPINA5_ENST00000554276.1_Nonsense_Mutation_p.E93*	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	93					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCAGATCCTGGAGGGCCTGGG	0.592000													4	30					0.000602214	0.000673664	1	1	0
DSC2	1824	broad.mit.edu	37	18	28659834	28659834	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr18:28659834T>C	ENST00000280904.6	-	11	2085	c.1642A>G	c.(1642-1644)Aca>Gca	p.T548A	DSC2_ENST00000251081.6_Missense_Mutation_p.T548A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	548	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCAAGGACTGTAATATTATAT	0.383000													28	195					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106647305	106647305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:106647305C>A	ENST00000526355.1	-	6	2164	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E587*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E566*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	566	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCTATTGTTTCCACCTGCAGC	0.423000													16	55					2.23348e-06	2.65604e-06	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	79878692	79878692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:79878692G>A	ENST00000466387.1	+	6	734	c.10G>A	c.(10-12)Gca>Aca	p.A4T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A4T|CTNNA2_ENST00000409266.1_Missense_Mutation_p.A4T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A38T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A4T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A4T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A4T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	4					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CATGACTTCGGCAACTTCACC	0.403000													48	33					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072276	134072276	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr4:134072276C>G	ENST00000264360.4	+	1	1807	c.981C>G	c.(979-981)taC>taG	p.Y327*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	327	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCAAGTGTACGTGCAAGCCA	0.617000													23	88					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8503718	8503718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:8503718G>A	ENST00000262648.3	-	12	1905	c.1756C>T	c.(1756-1758)Caa>Taa	p.Q586*	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	586	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CAAGTCACTTGAAACCCAGTC	0.507000													19	40					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71971720	71971720	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:71971720C>A	ENST00000266674.5	+	14	1535	c.1224C>A	c.(1222-1224)aaC>aaA	p.N408K	LGR5_ENST00000540815.2_Missense_Mutation_p.N384K|LGR5_ENST00000536515.1_Missense_Mutation_p.N336K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	408						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGCTTGGAACAAAATTGCTA	0.313000													17	71					6.94344e-10	9.40035e-10	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71949314	71949314	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:71949314A>G	ENST00000541756.1	+	28	3898	c.2968A>G	c.(2968-2970)Acc>Gcc	p.T990A	INPPL1_ENST00000298229.2_Missense_Mutation_p.T1232A|INPPL1_ENST00000538751.1_Missense_Mutation_p.T990A			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1232	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGACATCACCGAGGAGGA	0.652000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	38					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56348107	56348107	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:56348107G>A	ENST00000548747.1	-	11	2539	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	PMEL_ENST00000360714.4_Missense_Mutation_p.S633F|PMEL_ENST00000539511.1_Missense_Mutation_p.S540F|PMEL_ENST00000536427.1_Missense_Mutation_p.S591F|PMEL_ENST00000552882.1_Missense_Mutation_p.S626F|PMEL_ENST00000449260.2_Missense_Mutation_p.S633F|PMEL_ENST00000550447.1_Missense_Mutation_p.S255F|PMEL_ENST00000550464.1_Missense_Mutation_p.S540F|PMEL_ENST00000548493.1_Missense_Mutation_p.S626F			P40967	PMEL_HUMAN	premelanosome protein	626					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGGGGTACGGAGAAGTCTTG	0.532000													20	58					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634898	79634898	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:79634898A>C	ENST00000376708.1	+	1	328	c.328A>C	c.(328-330)Aag>Cag	p.K110Q		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	110					brain development|embryo 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			breast(1)|lung(8)|ovary(1)	10						CAAGCGCTTCAAGGTGCTGCG	0.687000													7	32					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60156889	60156889	+	Silent	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:60156889A>T	ENST00000358246.1	+	4	424	c.231A>T	c.(229-231)gcA>gcT	p.A77A	MS4A7_ENST00000534016.1_Silent_p.A77A|MS4A7_ENST00000300184.3_Silent_p.A122A|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	122						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCTCAAATGCAGTGAGTTCTG	0.493000													22	41					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82868632	82868632	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:82868632G>T	ENST00000298281.4	+	1	603	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	51	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCTGCCCTTCGCCAAGGAGAT	0.512000													20	138					8.10497e-08	1.0387e-07	1	1	0
RB1CC1	9821	broad.mit.edu	37	8	53540687	53540687	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:53540687C>A	ENST00000025008.5	-	22	5064	c.4541G>T	c.(4540-4542)cGc>cTc	p.R1514L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1514L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1514L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1514			R -> C (in a breast cancer sample; somatic mutation).		autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTGTCATGGCGTTCGTCTAG	0.383000													17	99					6.94344e-10	9.40035e-10	1	1	0
SLC35A4	113829	broad.mit.edu	37	5	139947518	139947518	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:139947518T>A	ENST00000514199.1	+	2	2450	c.764T>A	c.(763-765)cTc>cAc	p.L255H	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L255H			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	255	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGCACTCGTGGTGCTG	0.572000													17	80					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003064	122003064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:122003064G>T	ENST00000498619.1	+	7	2731	c.2293G>T	c.(2293-2295)Gag>Tag	p.E765*	CASR_ENST00000296154.5_Nonsense_Mutation_p.E755*|CASR_ENST00000490131.1_Nonsense_Mutation_p.E755*	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	755					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCGCAACCAGGAGCTGGAGGA	0.582000													15	53					1.5739e-10	2.16411e-10	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56030937	56030937	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:56030937C>A	ENST00000309675.2	+	1	294	c.262C>A	c.(262-264)Ccg>Acg	p.P88T		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	88			P -> L (in dbSNP:rs10876838).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTGGGCTCCCCGCATCCCCA	0.607000													23	69					2.98393e-07	3.75123e-07	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135583317	135583317	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:135583317G>A	ENST00000513104.1	-	7	1968	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	TRPC7_ENST00000355180.3_Silent_p.N501N|TRPC7_ENST00000426057.2_Silent_p.N446N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	562					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAAACTCTCGTTGGCTGGCA	0.493000													23	120					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20778751	20778751	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:20778751G>T	ENST00000404938.2	+	24	3665	c.3013G>T	c.(3013-3015)Ggg>Tgg	p.G1005W	ABCB5_ENST00000258738.6_Missense_Mutation_p.G560W	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	560					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTCAAGAAGGGAAAAAGCC	0.478000													5	21					0.014758	0.0155223	1	1	0
TROAP	10024	broad.mit.edu	37	12	49723991	49723991	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:49723991G>A	ENST00000551245.1	+	13	1474	c.1363G>A	c.(1363-1365)Gtc>Atc	p.V455I	TROAP_ENST00000547923.1_Missense_Mutation_p.V163I|TROAP_ENST00000257909.3_Missense_Mutation_p.V455I			Q12815	TROAP_HUMAN	trophinin associated protein	455					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGGCCAGTGTGTCCCTCTTAA	0.532000													28	164					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56047370	56047370	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr6:56047370A>C	ENST00000244728.5	-	2	444	c.47T>G	c.(46-48)cTt>cGt	p.L16R	COL21A1_ENST00000370819.1_Missense_Mutation_p.L16R|COL21A1_ENST00000535941.1_Missense_Mutation_p.L16R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	16					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGAATTCTGAAGAAGCAGCAC	0.338000													5	11					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039807	29039807	+	Splice_Site	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr18:29039807G>T	ENST00000257189.4	+	6	600		c.e6-1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTATTCCTAGACTCACTGGT	0.323000													18	50					2.35188e-11	3.3203e-11	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996289	140996289	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:140996289G>A	ENST00000285879.4	+	4	3385	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	MAGEC1_ENST00000406005.2_Silent_p.E100E	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1033	MAGE.						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)					CTGGGAGGGAGCACTTTGCCT	0.527000										HNSCC(15;0.026)			24	136					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133942497	133942497	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:133942497G>A	ENST00000361069.4	+	14	2631	c.2498G>A	c.(2497-2499)cGc>cAc	p.R833H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	833	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACTGCCTGCGCTGCCTGCAC	0.652000													12	43					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18348707	18348707	+	Splice_Site	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:18348707C>A	ENST00000251900.4	-	3	250	c.91_splice	c.e3+1	p.D31_splice		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	31					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.D31H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TAAAACCTACCCCTTTGTACA	0.303000													7	24					0.0381472	0.0396491	1	1	0
OR5I1	10798	broad.mit.edu	37	11	55703818	55703818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:55703818G>T	ENST00000301532.3	-	1	58	c.59C>A	c.(58-60)cCa>cAa	p.P20Q		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGGCGAGTTGGAAAACCTAA	0.368000													11	56					3.86212e-05	4.4524e-05	1	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702773	40702773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr9:40702773G>T	ENST00000356699.5	+	4	459	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		GCCTATGGAAGATGCTGCTCC	0.592000													32	169					4.65686e-17	7.10643e-17	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53420525	53420525	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr13:53420525C>A	ENST00000377942.3	-	1	2250	c.2047G>T	c.(2047-2049)Ggt>Tgt	p.G683C	PCDH8_ENST00000338862.4_Missense_Mutation_p.G683C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	683	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AACACGCGACCGGGTGGCTCC	0.706000													5	26					0.217242	0.220584	1	1	0
PTPRF	5792	broad.mit.edu	37	1	44070993	44070993	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:44070993C>T	ENST00000359947.4	+	18	3608	c.3268C>T	c.(3268-3270)Ctg>Ttg	p.L1090L	PTPRF_ENST00000422171.2_Silent_p.L438L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.L1081L|PTPRF_ENST00000372413.3_Silent_p.L1081L|PTPRF_ENST00000372414.3_Silent_p.L1090L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1090	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGCAGCACCTGGTGTCCAT	0.637000													20	85					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872458	136872458	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:136872458G>A	ENST00000409817.1	-	1	1355	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CXCR4_ENST00000241393.3_Missense_Mutation_p.S347L|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	347					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GTGAAAACTTGAAGACTCAGA	0.398000													5	10					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874847	23874847	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr14:23874847A>T	ENST00000405093.3	-	4	404	c.334T>A	c.(334-336)Tgg>Agg	p.W112R	MYH6_ENST00000356287.3_Missense_Mutation_p.W112R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	112	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TATATCATCCAGGCCGCGTAG	0.587000													35	25					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173894896	173894896	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:173894896A>T	ENST00000264111.6	+	26	2747	c.2560A>T	c.(2560-2562)Aag>Tag	p.K854*	RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.K702*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.K855*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.K711*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.K702*|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.K684*|RAPGEF4_ENST00000535187.1_Nonsense_Mutation_p.K635*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.K855*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	855	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTTCAGCTGTAAGGAGTATAA	0.378000													17	38					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139707123	139707123	+	Splice_Site	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr8:139707123C>T	ENST00000303045.6	-	33	3039		c.e33-1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGTTCTCCCTGTTGGTGAG	0.617000										HNSCC(7;0.00092)			10	59					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591082	33591082	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr13:33591082G>T	ENST00000380099.3	+	1	512	c.504G>T	c.(502-504)gaG>gaT	p.E168D	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	168	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAACCGCGAGGGGCTGCGCT	0.721000													11	11					9.70103e-10	1.30004e-09	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140281772	140281772	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr3:140281772T>A	ENST00000458420.3	+	14	2522	c.2332T>A	c.(2332-2334)Tac>Aac	p.Y778N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	778					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAATGGGCGCTACACTAGCAA	0.532000										HNSCC(16;0.037)			9	59					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838800	17838800	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr19:17838800C>T	ENST00000324096.4	+	5	2758	c.2607C>T	c.(2605-2607)ccC>ccT	p.P869P	MAP1S_ENST00000544059.2_Silent_p.P843P|MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	869	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCCCGCCCCAACTCACGCG	0.677000													6	5					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636969	248636969	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:248636969G>A	ENST00000359594.2	+	1	343	c.318G>A	c.(316-318)atG>atA	p.M106I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GGATCCAGATGTTCTTCTACC	0.542000													40	106					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943061	6943061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:6943061C>T	ENST00000317834.3	+	1	857	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTACATGCGACCAAACTC	0.433000													29	75					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106647306	106647306	+	Silent	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:106647306C>A	ENST00000526355.1	-	6	2163	c.1695G>T	c.(1693-1695)gtG>gtT	p.V565V	GUCY1A2_ENST00000347596.2_Silent_p.V586V|GUCY1A2_ENST00000282249.2_Silent_p.V565V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	565	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTATTGTTTCCACCTGCAGCA	0.428000													16	55					2.23348e-06	2.65604e-06	1	1	0
IL15RA	3601	broad.mit.edu	37	10	6002511	6002511	+	Silent	SNP	G	G	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:6002511G>A	ENST00000525219.2	-	4	588	c.294C>T	c.(292-294)ccC>ccT	p.P98P	IL15RA_ENST00000397248.2_Silent_p.P98P|IL15RA_ENST00000379971.1_Silent_p.P36P|IL15RA_ENST00000528354.1_Silent_p.P101P|IL15RA_ENST00000397250.2_Silent_p.P36P|IL15RA_ENST00000379977.3_Silent_p.P134P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397255.3_Silent_p.P134P|IL15RA_ENST00000530685.1_Silent_p.P101P|IL15RA_ENST00000397251.3_Silent_p.P69P	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	134					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGTTTGAGCTGGGAGATGAAG	0.572000													14	40					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141643729	141643729	+	Silent	SNP	C	C	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr2:141643729C>T	ENST00000389484.3	-	24	4913	c.3942G>A	c.(3940-3942)cgG>cgA	p.R1314R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1314					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGCTTTCCCCGGTATATTC	0.308000										TSP Lung(27;0.18)			14	31					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000													3	18					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88098906	88098906	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr16:88098906G>T	ENST00000393207.1	+	12	1533	c.1312G>T	c.(1312-1314)Gcc>Tcc	p.A438S	BANP_ENST00000538234.1_Intron|BANP_ENST00000286122.7_Missense_Mutation_p.A438S|BANP_ENST00000393208.2_Missense_Mutation_p.A410S|BANP_ENST00000479780.2_Intron|BANP_ENST00000355163.5_Missense_Mutation_p.A416S|BANP_ENST00000355022.4_Intron	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	438					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ctgcctcctggccccatccgt	0.562000													5	20					0.184627	0.188192	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83014688	83014688	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:83014688C>A	ENST00000307792.3	-	16	2264	c.1797G>T	c.(1795-1797)ttG>ttT	p.L599F	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L539F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	599	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TACATTCCAGCAAAGTACTGT	0.403000													20	202					1.2644e-06	1.55983e-06	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522821	23522821	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:23522821C>A	ENST00000296682.3	+	8	891	c.709C>A	c.(709-711)Cgt>Agt	p.R237S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	237					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCACCCCAACCGTTCAGCCCT	0.567000										HNSCC(3;0.000094)			5	76					0.014758	0.0155223	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	36019983	36019984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:36019983_36019984insA	ENST00000325722.3	-	2	343_344	c.109_110insT	c.(109-111)cttfs	p.L37fs		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	37				C -> Y (in Ref. 1; AAN61054 and 2; AAG24389).		cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGCAAAAGCAAGTATAAAAC	0.391													23	67	---	---	---	---					
SGIP1	84251	broad.mit.edu	37	1	67155887	67155887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:67155887delC	ENST00000371037.4	+	17	1535	c.1458delC	c.(1456-1458)agfs	p.S486fs	SGIP1_ENST00000371035.3_Frame_Shift_Del_p.S276fs|SGIP1_ENST00000371036.3_Frame_Shift_Del_p.S286fs|SGIP1_ENST00000371039.1_Frame_Shift_Del_p.S287fs|SGIP1_ENST00000237247.6_Frame_Shift_Del_p.S517fs	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	486	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACCTTTTAGCCCTCCCATTC	0.463													14	208	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216166426	216166426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr1:216166426delG	ENST00000366943.2	-	35	7127	c.6741delC	c.(6739-6741)ccfs	p.P2247fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.P2247fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2247	Fibronectin type-III 9.				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)		AGTGGGCTTTGGGGGCTGGCA	0.502										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	352	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32444350	32444352	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr5:32444350_32444352delGCC	ENST00000265069.8	-	2	222_224	c.120_122delGGC	c.(118-123)gct>gc	p.AA42del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	42	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGGgccgcagccgccgccgccg	0.680													2	4	---	---	---	---					
DBNL	28988	broad.mit.edu	37	7	44096475	44096475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:44096475delC	ENST00000494774.1	+	5	468	c.447delC	c.(445-447)ttfs	p.F149fs	DBNL_ENST00000456905.1_Intron|DBNL_ENST00000452943.1_Frame_Shift_Del_p.F124fs|DBNL_ENST00000448521.1_Frame_Shift_Del_p.F149fs|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Frame_Shift_Del_p.F149fs|DBNL_ENST00000440166.1_Frame_Shift_Del_p.F46fs|DBNL_ENST00000490734.2_Frame_Shift_Del_p.F54fs	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	149					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GTGGCCGCTTCCAGGACGTGG	0.617													16	108	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87047877	87047877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr7:87047877delG	ENST00000265723.4	-	20	2565	c.2454delC	c.(2452-2454)gcfs	p.A818fs	ABCB4_ENST00000453593.1_Frame_Shift_Del_p.A818fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.A818fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.A818fs|ABCB4_ENST00000545634.1_Frame_Shift_Del_p.A818fs	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	818	ABC transmembrane type-1 2.				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)					CAGCATCTGTGGCAAGTCTTG	0.383													8	75	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													7	145	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89424037	89424038	+	RNA	INS	-	-	T			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr11:89424037_89424038insT	ENST00000532352.1	+	0	1512							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						ATGTTTTGTTATTTTTTCTGTA	0.317													12	71	---	---	---	---					
UBC	7316	broad.mit.edu	37	12	125397809	125397810	+	In_Frame_Ins	INS	-	-	CCA			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr12:125397809_125397810insCCA	ENST00000536769.1	-	1	2084_2085	c.508_509insTGG	c.(508-510)gcc>TGGgcc	p.169_170insW	UBC_ENST00000339647.5_In_Frame_Ins_p.169_170insW|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	169	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCACTGGGCTCCACCTCGAGG	0.520													53	140	---	---	---	---					
OTOA	146183	broad.mit.edu	37	16	21698880	21698880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr16:21698880delG	ENST00000388958.3	+	7	547	c.546delG	c.(544-546)aafs	p.K182fs	OTOA_ENST00000388956.4_Frame_Shift_Del_p.K103fs|OTOA_ENST00000286149.4_Frame_Shift_Del_p.K182fs	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	182					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCTGGGCAAGGTGCTGAGGG	0.592													33	66	---	---	---	---					
PDF	64146	broad.mit.edu	37	16	69364026	69364028	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr16:69364026_69364028delGGG	ENST00000288022.1	-	1	470_472	c.446_448delCCC	c.(445-450)ctg>c	p.PL149del	COG8_ENST00000306875.4_Intron	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	149					N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity			NS(1)|prostate(1)	2						AACACGCGCAGGGGGAAGGGCTC	0.734													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11097726	11097726	+	RNA	DEL	G	G	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chr21:11097726delG	ENST00000470054.1	-	0	223									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCAGTTTCAGCGAAGGCACT	0.587													3	5	---	---	---	---					
FAM47A	158724	broad.mit.edu	37	X	34149168	34149168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:34149168delG	ENST00000346193.3	-	1	1279	c.1228delC	c.(1228-1230)atfs	p.H410fs		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	410										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCGGAGATGGCACACTCCA	0.567													42	70	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42384500	42384501	+	RNA	INS	-	-	A	rs58099801		TCGA-55-8508-01A-11D-2393-08	TCGA-55-8508-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edfe3212-890a-41b8-9cc4-c19ed953df62	589f3819-1d2a-4a9d-8699-e4d6e78eb426	g.chrX:42384500_42384501insA	ENST00000411879.1	+	0	523																											tttgtctcaggaaaaaaaaaaa	0.421													3	3	---	---	---	---					
