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
EP400	57634	broad.mit.edu	37	12	132490799	132490799	+	Silent	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:132490799G>T	ENST00000333577.4	+	15	3295	c.3186G>T	c.(3184-3186)gcG>gcT	p.A1062A	EP400_ENST00000330386.6_Silent_p.A1026A|EP400_ENST00000332482.4_Silent_p.A989A|EP400_ENST00000389562.2_Silent_p.A1025A|EP400_ENST00000389561.2_Silent_p.A1026A			Q96L91	EP400_HUMAN	E1A binding protein p400	1062	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACGTCACTGCGGTGGCTGAAG	0.552000													15	51					8.60227e-14	1.30364e-13	1	1	0
IGLV5-45	28781	broad.mit.edu	37	22	22730631	22730631	+	RNA	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr22:22730631C>A	ENST00000390296.2	+	0	154																											TCACCTGCACCTTGCGCAGTG	0.537000													11	104					0.0692343	0.0701893	1	1	0
C17orf97	400566	broad.mit.edu	37	17	263809	263809	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr17:263809A>T	ENST00000360127.6	+	2	1191	c.1175A>T	c.(1174-1176)cAg>cTg	p.Q392L	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	422	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGCCACAGGCAGCCCACGTCG	0.562000													18	95					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563854	84563854	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:84563854G>T	ENST00000369689.1	+	3	364	c.213G>T	c.(211-213)aaG>aaT	p.K71N	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.K13N	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	71					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						CCTCAGGAAAGCTTTACCAAT	0.597000													9	57					2.17888e-05	2.64707e-05	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75907006	75907006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:75907006G>T	ENST00000274364.6	+	13	1816	c.1519G>T	c.(1519-1521)Gga>Tga	p.G507*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.G66*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.G60*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.G60*	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	507					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAGAAACTCGGAGTAAGTTT	0.423000													8	72					3.09899e-07	4.17937e-07	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21779290	21779290	+	Splice_Site	SNP	A	A	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr7:21779290A>C	ENST00000328843.6	+	49	7965	c.7935_splice	c.e49+1	p.Q2645_splice	DNAH11_ENST00000409508.3_Splice_Site_p.Q2638_splice			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2645	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCAGGCTACAGGTAGGGTGT	0.433000									Kartagener syndrome				6	52					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53079547	53079547	+	Splice_Site	SNP	C	C	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr8:53079547C>G	ENST00000276480.7	-	11	1753		c.e11-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTGGTGAATCTATGGAGAAA	0.478000													18	113					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430423	49430423	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr16:49430423C>G	ENST00000299191.3	+	4	601	c.484C>G	c.(484-486)Cag>Gag	p.Q162E		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	162										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCCATGTTACAGGAGGGTAC	0.493000													10	67					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221625	55221625	+	RNA	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr19:55221625C>T	ENST00000413439.1	+	0	1405																											CCCTGAGCATCCTGATCGCAG	0.677000													6	41					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51503755	51503755	+	Splice_Site	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:51503755C>A	ENST00000371117.3	-	64	11674		c.e64-1			NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGTGCACCCTACAAAAAAG	0.383000													18	113					2.94398e-08	4.04454e-08	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25330615	25330615	+	RNA	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr15:25330615C>A	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1																						CCTCGTCGAACTGAGGTCCAG	0.463000													15	184					1.5739e-10	2.26826e-10	1	1	0
ST8SIA4	7903	broad.mit.edu	37	5	100191888	100191888	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:100191888C>A	ENST00000231461.5	-	4	1026	c.716G>T	c.(715-717)tGg>tTg	p.W239L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	239					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGCATTAACCCACTCCACGTG	0.428000													18	94					6.49762e-13	9.74643e-13	1	1	0
C9	735	broad.mit.edu	37	5	39331798	39331798	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:39331798C>A	ENST00000263408.4	-	5	690	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	199	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAAGAAGCCACGTTCCAAGGT	0.418000													13	82					4.3838e-07	5.85835e-07	1	1	0
ARG1	383	broad.mit.edu	37	6	131900276	131900276	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:131900276C>A	ENST00000368087.3	+	3	295	c.156C>A	c.(154-156)gaC>gaA	p.D52E	ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Missense_Mutation_p.D60E|ARG1_ENST00000476845.1_Missense_Mutation_p.D52E|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	52					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	ATTATGGGGACCTGCCCTTTG	0.408000													13	63					7.93312e-07	1.04122e-06	1	1	0
HERC4	26091	broad.mit.edu	37	10	69699384	69699384	+	Silent	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr10:69699384T>C	ENST00000395198.3	-	22	2803	c.2556A>G	c.(2554-2556)ccA>ccG	p.P852P	HERC4_ENST00000277817.6_Silent_p.P742P|HERC4_ENST00000373700.4_Silent_p.P844P|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	852	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGTCATCTTCTGGATAATCCA	0.303000													10	59					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208799	58208799	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr13:58208799C>A	ENST00000377918.3	+	1	2145	c.2119C>A	c.(2119-2121)Ccg>Acg	p.P707T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	707					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CATGTCGCTGCCGCTCATCGT	0.602000													6	73					0.217242	0.217242	1	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282102	52282102	+	Silent	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:52282102C>A	ENST00000301190.6	+	1	359	c.132C>A	c.(130-132)acC>acA	p.T44T	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TCATAGATACCCTACGAACCC	0.587000													14	61					0.00316338	0.00336969	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182666	140182666	+	Silent	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:140182666G>T	ENST00000522353.2	+	1	1884	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.T628T|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGTACACGGGAGAGATCA	0.657000													10	81					2.17888e-05	2.64707e-05	1	1	0
EGF	1950	broad.mit.edu	37	4	110895916	110895916	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr4:110895916G>C	ENST00000265171.5	+	12	2227	c.1782G>C	c.(1780-1782)aaG>aaC	p.K594N	EGF_ENST00000509793.1_Missense_Mutation_p.K552N|EGF_ENST00000503392.1_Missense_Mutation_p.K594N	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	594					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAATCACTAAGGAGAACATCT	0.378000													14	58					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182665	140182665	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:140182665C>T	ENST00000522353.2	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T628M|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGTACACGGGAGAGATC	0.662000													9	81					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731000													6	6					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806021	22806021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr18:22806021G>A	ENST00000361524.3	-	4	2009	c.1861C>T	c.(1861-1863)Cag>Tag	p.Q621*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q621*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q401*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	621					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTACTGCCTGCATCATCTTA	0.478000			T	PAX5	ALL								14	104					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654627	46654627	+	Silent	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr22:46654627C>T	ENST00000253255.5	-	1	4592	c.4593G>A	c.(4591-4593)ccG>ccA	p.P1531P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1531					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGAGGGTCTCCGGGGTCTTGA	0.483000													41	212					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542285	154542285	+	Silent	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:154542285C>T	ENST00000368476.3	+	3	492	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	76					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GGGAGCAGATCATGACCACCA	0.592000													9	70					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64102006	64102006	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:64102006G>T	ENST00000371083.4	+	6	1397	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	PGM1_ENST00000540265.1_Missense_Mutation_p.Q128H|PGM1_ENST00000371084.3_Missense_Mutation_p.Q325H	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	325					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTTCCAGCAGACTGGGGTCC	0.547000													4	72					0.014758	0.0151708	1	1	0
VMP1	81671	broad.mit.edu	37	17	57851156	57851156	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr17:57851156G>T	ENST00000262291.4	+	7	934	c.624G>T	c.(622-624)atG>atT	p.M208I	VMP1_ENST00000537567.1_Missense_Mutation_p.M74I|VMP1_ENST00000536180.1_Missense_Mutation_p.M111I|VMP1_ENST00000545362.1_Missense_Mutation_p.M152I|VMP1_ENST00000539763.1_Missense_Mutation_p.M16I	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	208					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CATATTTCATGGCCAGAGCAG	0.443000													9	40					1.12685e-05	1.44041e-05	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_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)			18	9					3.51602e-12	5.22075e-12	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8460526	8460526	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr9:8460526C>G	ENST00000381196.4	-	30	4303	c.3760G>C	c.(3760-3762)Gat>Cat	p.D1254H	PTPRD_ENST00000397606.3_Missense_Mutation_p.D833H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D840H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D833H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1254H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1241H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1232H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D840H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D843H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1254H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D843H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1254					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGATCCAGATCCATTGACACC	0.438000										TSP Lung(15;0.13)			18	74					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129498900	129498900	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:129498900C>A	ENST00000421865.2	+	10	1405	c.1356C>A	c.(1354-1356)agC>agA	p.S452R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	452	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGGTGTGAGCTGTGATCGGT	0.468000													6	47					1.26484e-09	1.80517e-09	1	1	0
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294						adherens junction|cilium|microtubule basal body		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313000													5	68					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398954	233398954	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:233398954G>A	ENST00000258385.3	+	11	1305	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	CHRND_ENST00000543200.1_Missense_Mutation_p.E410K|CHRND_ENST00000457943.2_Missense_Mutation_p.E231K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	425					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGCAAGCTCTGAGCAGGCCCA	0.577000													7	45					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622597	30622597	+	Silent	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:30622597T>C	ENST00000376442.3	-	19	3078	c.2883A>G	c.(2881-2883)acA>acG	p.T961T	DHX16_ENST00000376437.5_Silent_p.T480T	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	961					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GCTGTTTCACTGTGCGGTAGC	0.522000													8	52					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504339	64504339	+	Silent	SNP	G	G	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:64504339G>C	ENST00000377494.1	-	8	1903	c.981C>G	c.(979-981)acC>acG	p.T327T	RASGRP2_ENST00000377497.3_Silent_p.T327T|RASGRP2_ENST00000394432.3_Silent_p.T327T|RASGRP2_ENST00000354024.3_Silent_p.T327T			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	327	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTTGAGCCGGGTCCGGGCTG	0.662000													4	12					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61958143	61958143	+	Silent	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr10:61958143G>A	ENST00000280772.1	-	14	1835	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A	ANK3_ENST00000373827.2_Silent_p.A542A|ANK3_ENST00000503366.1_Silent_p.A531A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	548					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAGGAACGCGGCCACATCCT	0.498000													9	67					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326825	57326825	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr19:57326825C>A	ENST00000326441.9	-	10	3348	c.2985G>T	c.(2983-2985)aaG>aaT	p.K995N	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K871N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K869N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K995N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	995					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)		TTCCAGAGGGCTTCTCCCTAT	0.507000													10	84					2.17888e-05	2.64707e-05	1	1	0
NDN	4692	broad.mit.edu	37	15	23932083	23932083	+	Silent	SNP	G	G	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr15:23932083G>C	ENST00000331837.4	-	1	367	c.282C>G	c.(280-282)gcC>gcG	p.A94A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	94					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCTGCGCCGGGGCTGGCGGTG	0.682000									Prader-Willi syndrome				4	33					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8046912	8046912	+	Silent	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr4:8046912C>A	ENST00000318888.4	-	9	1021	c.150G>T	c.(148-150)ggG>ggT	p.G50G	ABLIM2_ENST00000361581.5_Silent_p.G293G|ABLIM2_ENST00000546334.1_Silent_p.G293G|ABLIM2_ENST00000514025.1_Silent_p.G50G|ABLIM2_ENST00000341937.5_Silent_p.G293G|ABLIM2_ENST00000447017.2_Silent_p.G293G|ABLIM2_ENST00000407564.3_Silent_p.G293G|ABLIM2_ENST00000545242.1_Silent_p.G293G|ABLIM2_ENST00000428004.2_Silent_p.G293G|ABLIM2_ENST00000296372.8_Silent_p.G293G|ABLIM2_ENST00000361737.5_Silent_p.G293G|ABLIM2_ENST00000505872.1_Silent_p.G293G			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	293	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGCTCGGAGACCCTGAGGTGC	0.557000													5	73					3.59834e-05	4.3357e-05	1	1	0
RASSF9	9182	broad.mit.edu	37	12	86199251	86199251	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:86199251A>T	ENST00000361228.3	-	2	905	c.537T>A	c.(535-537)gaT>gaA	p.D179E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	179					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTATCTCGATCATGAGAAA	0.368000													23	131					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117578	194117578	+	Silent	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr3:194117578C>T	ENST00000401815.1	-	1	1505	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	GP5_ENST00000323007.3_Silent_p.P478P			P40197	GPV_HUMAN	glycoprotein V (platelet)	478					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		ggcggggaggcgggccccggg	0.776000													7	43					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945679	53945679	+	RNA	SNP	T	T	G	rs12986193	by1000genomes	TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr19:53945679T>G	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGGAAGAGATGAAGATTCTT	0.438000													4	69					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036074	110036074	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:110036074G>A	ENST00000453089.2	+	5	3052	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R755Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R756Q			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	755							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCTGACTCTCGACTTTATGAC	0.562000													13	138					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354041	17354041	+	RNA	SNP	T	T	C	rs7715898	by1000genomes	TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:17354041T>C	ENST00000511821.1	+	0	23				FTH1P10_ENST00000401830.3_RNA																							TCCGCCAAGCTAGATTCGGGT	0.488000													4	52					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862826	14862826	+	Silent	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr3:14862826C>A	ENST00000285046.5	+	1	2358	c.2248C>A	c.(2248-2250)Cgg>Agg	p.R750R	FGD5_ENST00000543601.1_Silent_p.R509R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	750					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGACCGCTCCCGGCCGCCCTT	0.567000													30	177					9.04072e-19	1.44455e-18	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390744	197390744	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:197390744C>A	ENST00000367400.3	+	6	1921	c.1786C>A	c.(1786-1788)Cct>Act	p.P596T	CRB1_ENST00000535699.1_Missense_Mutation_p.P527T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P77T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.P596T|CRB1_ENST00000367399.2_Missense_Mutation_p.P484T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	596	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGCGAAAGCTCCTACTCCACT	0.458000													24	97					9.95505e-16	1.57354e-15	1	1	0
MAGED1	9500	broad.mit.edu	37	X	51644715	51644715	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chrX:51644715G>T	ENST00000375695.2	+	13	2347	c.2194G>T	c.(2194-2196)Gct>Tct	p.A732S	MAGED1_ENST00000375772.3_Missense_Mutation_p.A676S|MAGED1_ENST00000326587.7_Missense_Mutation_p.A676S|MAGED1_ENST00000375722.1_Missense_Mutation_p.A676S|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	676					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGCCTTGGATGCTCTGGATGC	0.542000										Multiple Myeloma(10;0.10)			5	12					1.23904e-05	1.55674e-05	1	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148689530	148689530	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:148689530C>A	ENST00000296721.4	+	8	857	c.759C>A	c.(757-759)agC>agA	p.S253R	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S253R	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	253	PH 1.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTACAAAAGCTCCAAGGATC	0.552000													7	56					0.00307968	0.00330447	1	1	0
ZC3H10	84872	broad.mit.edu	37	12	56514687	56514687	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:56514687G>T	ENST00000257940.2	+	3	617	c.341G>T	c.(340-342)cGg>cTg	p.R114L	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	114							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CTTCCCCCACGGCTGAGGCAG	0.552000													13	63					7.03913e-09	9.94953e-09	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50464012	50464012	+	Missense_Mutation	SNP	A	A	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:50464012A>G	ENST00000404971.1	-	19	4920	c.3581T>C	c.(3580-3582)aTa>aCa	p.I1194T	NRXN1_ENST00000405472.3_Missense_Mutation_p.I1146T|NRXN1_ENST00000342183.5_Missense_Mutation_p.I119T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1154T|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1154T|NRXN1_ENST00000401710.1_Missense_Mutation_p.I172T|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1146T|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1154T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1154	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTAAAACCTATGGCCAGTCT	0.473000													12	67					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944216	55944216	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:55944216G>T	ENST00000312298.1	+	1	123	c.123G>T	c.(121-123)agG>agT	p.R41S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTTGTTGAGGAATCTGGGCA	0.413000													40	180					6.1244e-12	9.00287e-12	1	1	0
MC2R	4158	broad.mit.edu	37	18	13884723	13884723	+	Silent	SNP	G	G	T	rs141349908	byFrequency	TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr18:13884723G>T	ENST00000327606.3	-	2	975	c.795C>A	c.(793-795)atC>atA	p.I265I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	265					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CATTGCACATGATCAACATGC	0.517000													19	79					5.03518e-11	7.32844e-11	1	1	0
LGR5	8549	broad.mit.edu	37	12	71977982	71977982	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:71977982T>A	ENST00000266674.5	+	18	2503	c.2192T>A	c.(2191-2193)tTg>tAg	p.L731*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.L707*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.L659*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	731						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						GCTCTCATCTTGCTCAATTCC	0.542000													25	91					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325369	9325369	+	Missense_Mutation	SNP	C	C	T	rs112089905		TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr19:9325369C>T	ENST00000308682.2	-	1	173	c.145G>A	c.(145-147)Gtc>Atc	p.V49I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCAGAGCTGACGGCCAGAATG	0.552000													18	90					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878440	150878440	+	Silent	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr7:150878440C>A	ENST00000422024.1	-	3	950	c.825G>T	c.(823-825)ctG>ctT	p.L275L	ASB10_ENST00000275838.1_Silent_p.L230L|ASB10_ENST00000420175.2_Silent_p.L230L|ASB10_ENST00000434669.1_Silent_p.L275L|ASB10_ENST00000377867.3_Silent_p.L215L	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	230					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGATCTGCCAGCTCCACAT	0.632000													5	32					0.00116845	0.00129144	1	1	0
RBBP7	5931	broad.mit.edu	37	X	16875781	16875781	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chrX:16875781T>C	ENST00000380087.2	-	5	893	c.533A>G	c.(532-534)gAa>gGa	p.E178G	RBBP7_ENST00000404022.1_Missense_Mutation_p.E169G|RBBP7_ENST00000380084.4_Missense_Mutation_p.E222G			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	178					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACCATAGCCTTCCTTCTGGTG	0.373000													27	71					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741476	164741476	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr3:164741476C>A	ENST00000264382.3	-	26	3043	c.2981G>T	c.(2980-2982)gGt>gTt	p.G994V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	994	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCTGTTATACCCATGGATGA	0.403000										HNSCC(35;0.089)			10	90					0.00829132	0.00876852	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209603	140209603	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:140209603C>T	ENST00000529310.1	+	1	2041	c.1927C>T	c.(1927-1929)Ccg>Tcg	p.P643S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGACTCTCCGCGCCACCG	0.682000													7	82					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37209995	37209995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr19:37209995C>A	ENST00000585696.1	+	3	1506	c.276C>A	c.(274-276)aaC>aaA	p.N92K	ZNF567_ENST00000392163.2_Missense_Mutation_p.N92K|ZNF567_ENST00000360729.4_Missense_Mutation_p.N92K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.N123K|ZNF567_ENST00000588311.1_Missense_Mutation_p.N92K			Q8N184	ZN567_HUMAN	zinc finger protein 567	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAGGCAAAAACCCTGTGAATT	0.323000													10	60					2.17888e-05	2.64707e-05	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2800109	2800109	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr8:2800109G>T	ENST00000520002.1	-	70	10978	c.10423C>A	c.(10423-10425)Caa>Aaa	p.Q3475K	CSMD1_ENST00000537824.1_Missense_Mutation_p.Q3474K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q3298K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q3298K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q3475K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q3297K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3475						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGAGTCTTGATCTGGGTTT	0.368000													5	11					0.014758	0.0151708	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43321743	43321743	+	Silent	SNP	T	T	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr21:43321743T>A	ENST00000380486.3	-	12	1789	c.1548A>T	c.(1546-1548)tcA>tcT	p.S516S	C2CD2_ENST00000329623.7_Silent_p.S361S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	516						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGGAGATCCCTGATATGATAA	0.507000													8	75					0	0	1	0	0
ADM	133	broad.mit.edu	37	11	10328160	10328160	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:10328160C>A	ENST00000528655.1	+	3	1147	c.530C>A	c.(529-531)cCg>cAg	p.P177Q	ADM_ENST00000534464.1_Missense_Mutation_p.P130Q|ADM_ENST00000530439.1_Missense_Mutation_p.P109Q|ADM_ENST00000278175.5_Missense_Mutation_p.P177Q|ADM_ENST00000525063.1_Missense_Mutation_p.P177Q			P35318	ADML_HUMAN	adrenomedullin	177					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CCAGCCCCCCCGAGTGGAAGT	0.667000													7	25					0.000157383	0.000182168	1	1	0
REG3A	5068	broad.mit.edu	37	2	79385471	79385471	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:79385471C>A	ENST00000393878.1	-	3	568	c.314G>T	c.(313-315)gGg>gTg	p.G105V	REG3A_ENST00000409839.3_Missense_Mutation_p.G105V|REG3A_ENST00000305165.2_Missense_Mutation_p.G105V	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	105	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTCATGGAGCCCAATCCAGAC	0.577000													6	47					0.0293803	0.0299924	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62024444	62024444	+	Silent	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr17:62024444C>A	ENST00000578147.1	-	18	3478	c.3402G>T	c.(3400-3402)ctG>ctT	p.L1134L	SCN4A_ENST00000435607.1_Silent_p.L1134L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1134					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCAGGGGACGCAGGGCCCGCA	0.667000											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	27					0.00909568	0.00948273	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580845	140580845	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:140580845C>A	ENST00000354757.3	+	1	1498	c.1498C>A	c.(1498-1500)Ctc>Atc	p.L500I	PCDHB11_ENST00000536699.1_Missense_Mutation_p.L135I	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCTGCCCCTCGCCTCCCT	0.652000													31	187					2.46105e-21	4.01972e-21	1	1	0
MASP1	5648	broad.mit.edu	37	3	186947563	186947563	+	Missense_Mutation	SNP	C	C	T	rs140743904		TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr3:186947563C>T	ENST00000337774.5	-	11	1815	c.1426G>A	c.(1426-1428)Gga>Aga	p.G476R		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	476	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGGAGCCTCCGCAGAAGGGC	0.557000													5	29					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605540	45605540	+	Silent	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr14:45605540T>C	ENST00000267430.5	+	1	391	c.306T>C	c.(304-306)gcT>gcC	p.A102A	FANCM_ENST00000556036.1_Silent_p.A102A|FANCM_ENST00000542564.2_Silent_p.A102A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	102	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCCGGGCTGCTCTGTTTTGCA	0.562000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	73					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071185	70071185	+	Silent	SNP	A	A	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:70071185A>G	ENST00000370598.1	+	29	4841	c.4020A>G	c.(4018-4020)ctA>ctG	p.L1340L	BAI3_ENST00000238918.8_Silent_p.L546L|BAI3_ENST00000546190.1_Silent_p.L304L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1340					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGAAAGGCTATTGCACTACA	0.403000													10	77					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721312	54721312	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr19:54721312G>A	ENST00000391750.1	-	13	1761	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	LILRB3_ENST00000407860.2_Missense_Mutation_p.T559M|LILRA6_ENST00000270464.5_Missense_Mutation_p.T543M|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.T542M|LILRB3_ENST00000346401.6_Missense_Mutation_p.T554M|LILRB3_ENST00000424807.1_Missense_Mutation_p.T542M|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.T543M|LILRB3_ENST00000245620.9_Missense_Mutation_p.T543M			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	542					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGGGCATACGTCACTGCCTG	0.572000													5	89					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631267	62631267	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr10:62631267G>C	ENST00000337910.5	-	11	2401	c.2064C>G	c.(2062-2064)ttC>ttG	p.F688L	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.F688L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	688					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATGAATTCCAGAAGCACCACT	0.423000													16	74					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204944444	204944444	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:204944444G>C	ENST00000367172.4	+	15	1932	c.1604G>C	c.(1603-1605)aGg>aCg	p.R535T	NFASC_ENST00000360049.4_Missense_Mutation_p.R546T|NFASC_ENST00000367169.4_Missense_Mutation_p.R535T|NFASC_ENST00000367170.4_Missense_Mutation_p.R535T|NFASC_ENST00000401399.1_Missense_Mutation_p.R535T|NFASC_ENST00000338586.6_Missense_Mutation_p.R535T|NFASC_ENST00000403080.1_Missense_Mutation_p.R535T|NFASC_ENST00000513543.1_Missense_Mutation_p.R546T|NFASC_ENST00000339876.6_Missense_Mutation_p.R535T|NFASC_ENST00000539706.1_Missense_Mutation_p.R546T|NFASC_ENST00000367171.4_Missense_Mutation_p.R535T|NFASC_ENST00000404076.1_Missense_Mutation_p.R529T|NFASC_ENST00000404907.1_Missense_Mutation_p.R546T|NFASC_ENST00000338515.6_Missense_Mutation_p.R535T			O94856	NFASC_HUMAN	neurofascin	535	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGCCAGAAGGGGCACCACG	0.622000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	96					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080327	126080327	+	Silent	SNP	A	A	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:126080327A>G	ENST00000368364.3	+	5	590	c.393A>G	c.(391-393)acA>acG	p.T131T	HEY2_ENST00000368365.1_Silent_p.T85T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	131	Orange.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AGTGCCTAACAGAAGTTGCGC	0.572000													12	71					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267415	107267415	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr9:107267415G>T	ENST00000334726.2	+	1	961	c.872G>T	c.(871-873)aGt>aTt	p.S291I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCATCTATAGTCTACGGAAC	0.398000													10	65					7.48243e-07	9.90916e-07	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77763939	77763939	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr8:77763939G>T	ENST00000521891.2	+	10	5230	c.4782G>T	c.(4780-4782)aaG>aaT	p.K1594N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1549N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1568N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1549N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1549						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)			AACCCTACAAGTGCAGCATCT	0.468000										HNSCC(33;0.089)			9	45					1.12685e-05	1.44041e-05	1	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282103	52282103	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:52282103C>A	ENST00000301190.6	+	1	360	c.133C>A	c.(133-135)Cta>Ata	p.L45I	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CATAGATACCCTACGAACCCC	0.587000													14	62					0.00244969	0.00264783	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89903267	89903267	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:89903267C>G	ENST00000534061.1	+	13	1603	c.1373C>G	c.(1372-1374)cCc>cGc	p.P458R	NAALAD2_ENST00000321955.4_Missense_Mutation_p.P425R|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	458	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GACTGTACTCCCCTTCTTTAC	0.299000													12	127					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2172480	2172480	+	Silent	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr4:2172480G>A	ENST00000511885.2	-	13	1833	c.1480C>T	c.(1480-1482)Ctg>Ttg	p.L494L	POLN_ENST00000382865.1_Silent_p.L494L|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	494					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGCAGGTGCAGCTTTAACTTG	0.433000								DNA polymerases (catalytic subunits)					11	71					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109792683	109792683	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr13:109792683C>T	ENST00000356711.2	+	32	4183	c.4057C>T	c.(4057-4059)Cgc>Tgc	p.R1353C	MYO16_ENST00000357550.2_Missense_Mutation_p.R1353C	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1353					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAGCCCAAGCGCAGCCCCAA	0.701000													7	27					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511283	195511283	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr3:195511283C>T	ENST00000463781.3	-	2	7627	c.7168G>A	c.(7168-7170)Gct>Act	p.A2390T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	148					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A2390T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGCGTCGGTGACA	0.592000													4	1					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013113	247013113	+	Silent	SNP	T	T	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:247013113T>A	ENST00000366508.1	-	33	6436	c.6300A>T	c.(6298-6300)tcA>tcT	p.S2100S	AHCTF1_ENST00000326225.3_Silent_p.S2074S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.S2065S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2065	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCGTTCTTCTGATACTGAGT	0.413000													12	90					0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156899136	156899136	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:156899136G>A	ENST00000337428.7	+	10	1215	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	354										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GTAGGGATCAGCAATAGTGCA	0.532000													6	21					0	0	1	0	0
C5orf24	134553	broad.mit.edu	37	5	134191112	134191112	+	Missense_Mutation	SNP	T	T	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:134191112T>G	ENST00000394976.3	+	2	750	c.522T>G	c.(520-522)caT>caG	p.H174Q	C5orf24_ENST00000435259.2_Missense_Mutation_p.H174Q|C5orf24_ENST00000504727.1_Intron|C5orf24_ENST00000338051.4_Missense_Mutation_p.H174Q	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	174										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCAGTTCATGGGGTAGAGG	0.478000													8	87					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263807	39263807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr13:39263807C>T	ENST00000280481.7	+	1	2542	c.2326C>T	c.(2326-2328)Caa>Taa	p.Q776*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	776					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCATTTTACCCAAGCCCAGAT	0.557000													5	51					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212293135	212293135	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:212293135T>C	ENST00000342788.4	-	22	3027	c.2717A>G	c.(2716-2718)tAt>tGt	p.Y906C	ERBB4_ENST00000402597.1_Missense_Mutation_p.Y896C|ERBB4_ENST00000436443.1_Missense_Mutation_p.Y906C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	906	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTATTTACCATAGCTCCAAAC	0.308000										TSP Lung(8;0.080)			14	82					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18267008	18267008	+	Silent	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:18267008C>A	ENST00000526900.1	-	4	468	c.285G>T	c.(283-285)ctG>ctT	p.L95L	SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Silent_p.L95L|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Silent_p.L95L|SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CCTGATCGGCCAGCGAGTCCT	0.552000													7	55					0.00198382	0.00216016	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168105687	168105687	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:168105687G>T	ENST00000409195.1	+	9	7874	c.7785G>T	c.(7783-7785)gaG>gaT	p.E2595D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2373D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2595D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2420			H -> Y (in dbSNP:rs16853329).		actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAATGAGGAGGTTTCCCTAT	0.408000													6	94					0.000151284	0.000177911	1	1	0
HPX	3263	broad.mit.edu	37	11	6459662	6459662	+	Silent	SNP	T	T	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:6459662T>G	ENST00000265983.3	-	5	514	c.414A>C	c.(412-414)ggA>ggC	p.G138G	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	138	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGGATGGGATTCCAGGAAATT	0.488000													12	96					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1480944	1480944	+	Silent	SNP	C	C	G	rs146101536	byFrequency	TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:1480944C>G	ENST00000345913.4	+	8	997	c.906C>G	c.(904-906)ggC>ggG	p.G302G	TPO_ENST00000382201.3_Silent_p.G302G|TPO_ENST00000346956.3_Silent_p.G302G|TPO_ENST00000337415.3_Silent_p.G302G|TPO_ENST00000329066.4_Silent_p.G302G|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	302					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGACCAAGGCGCGCTCTTTG	0.716000													4	14					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270709	12270709	+	Silent	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr7:12270709C>T	ENST00000396667.2	+	8	976	c.654C>T	c.(652-654)tcC>tcT	p.S218S	TMEM106B_ENST00000396668.3_Silent_p.S218S	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	218						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CTCTGATATCCATCAAAGTGC	0.279000													12	69					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390745	197390745	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:197390745C>A	ENST00000367400.3	+	6	1922	c.1787C>A	c.(1786-1788)cCt>cAt	p.P596H	CRB1_ENST00000535699.1_Missense_Mutation_p.P527H|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P77H|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.P596H|CRB1_ENST00000367399.2_Missense_Mutation_p.P484H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	596	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCGAAAGCTCCTACTCCACTT	0.458000													24	98					3.5997e-14	5.51204e-14	1	1	0
FYB	2533	broad.mit.edu	37	5	39202550	39202550	+	Silent	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:39202550G>T	ENST00000351578.6	-	2	703	c.513C>A	c.(511-513)ccC>ccA	p.P171P	FYB_ENST00000512982.1_Silent_p.P171P|FYB_ENST00000540520.1_Silent_p.P181P|FYB_ENST00000515010.1_Silent_p.P171P|FYB_ENST00000505428.1_Silent_p.P171P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	171					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CAGTCAATTTGGGAAACGCTT	0.493000													13	95					1.5842e-08	2.21788e-08	1	1	0
SLC22A16	85413	broad.mit.edu	37	6	110757116	110757116	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:110757116T>C	ENST00000368919.3	-	6	1426	c.1360A>G	c.(1360-1362)Atc>Gtc	p.I454V	SLC22A16_ENST00000330550.4_Missense_Mutation_p.I420V|SLC22A16_ENST00000439654.1_Missense_Mutation_p.I454V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	454					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCTGCCCCGATGGCAAATTTT	0.353000													10	69					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354037	17354037	+	RNA	SNP	A	A	G	rs7733712	by1000genomes	TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr5:17354037A>G	ENST00000511821.1	+	0	19				FTH1P10_ENST00000401830.3_RNA																							ATATTCCGCCAAGCTAGATTC	0.493000													4	49					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304318	55304318	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr6:55304318C>T	ENST00000398661.2	-	9	1056	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G176S|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G279S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G247S|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G113S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	309							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCAGCCACCTAATCCGGAT	0.418000													14	92					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146465924	146465924	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:146465924G>A	ENST00000442909.2	+	82	10635	c.9799G>A	c.(9799-9801)Gac>Aac	p.D3267N	NBPF12_ENST00000446760.2_3'UTR|NBPF12_ENST00000309471.8_3'UTR					neuroblastoma breakpoint family, member 12											ovary(2)	2						AGTCTTGCAGGACTCACTGGA	0.453000													12	148					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92131237	92131237	+	Nonsense_Mutation	SNP	G	G	A	rs61750418		TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr7:92131237G>A	ENST00000248633.4	-	14	2478	c.2383C>T	c.(2383-2385)Cga>Tga	p.R795*	PEX1_ENST00000428214.1_Nonsense_Mutation_p.R738*|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Nonsense_Mutation_p.R473*	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	795					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGAGAGAGTCGAGAATGTATG	0.393000													25	169					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906276	5906276	+	Missense_Mutation	SNP	T	T	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:5906276T>A	ENST00000316987.2	+	1	776	c.754T>A	c.(754-756)Ttt>Att	p.F252I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGCTGTGCTTTTACACACC	0.418000													23	143					0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27315292	27315292	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:27315292C>T	ENST00000260599.6	+	2	698	c.185C>T	c.(184-186)tCa>tTa	p.S62L	KHK_ENST00000260598.5_Missense_Mutation_p.S62L|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	62					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCATGGGCTCAATGGCTCCT	0.602000													5	37					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053965	89053965	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr8:89053965C>G	ENST00000286614.6	-	10	1829	c.1548G>C	c.(1546-1548)aaG>aaC	p.K516N		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	516	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAGGTTCTACCTTGAGTATCT	0.423000													10	58					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35731265	35731265	+	Missense_Mutation	SNP	A	A	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr13:35731265A>G	ENST00000540320.1	+	21	3236	c.2702A>G	c.(2701-2703)tAt>tGt	p.Y901C	NBEA_ENST00000400445.3_Missense_Mutation_p.Y901C|NBEA_ENST00000379939.2_Missense_Mutation_p.Y901C|NBEA_ENST00000310336.4_Missense_Mutation_p.Y901C			Q8NFP9	NBEA_HUMAN	neurobeachin	901						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTCTTGGCTATATCAATCCT	0.343000													36	115					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619638	619638	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr4:619638G>T	ENST00000255622.6	+	1	266	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	PDE6B_ENST00000496514.1_Missense_Mutation_p.V75L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	75	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CATGGAGCGCGTGGTCTTCAA	0.677000													6	23					0.00116845	0.00129144	1	1	0
DCT	1638	broad.mit.edu	37	13	95117947	95117947	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr13:95117947T>C	ENST00000377028.5	-	4	1216	c.803A>G	c.(802-804)gAc>gGc	p.D268G	DCT_ENST00000446125.1_Missense_Mutation_p.D268G|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	268					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGTCGGATCGTCTGGTCTCGC	0.502000													8	54					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425487	49425487	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr12:49425487G>T	ENST00000301067.7	-	39	13000	c.13001C>A	c.(13000-13002)gCc>gAc	p.A4334D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGGAGCTGGGCCTCAGTGGG	0.632000													7	13					0.00198382	0.00216016	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105414031	105414031	+	Missense_Mutation	SNP	A	A	G			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr14:105414031A>G	ENST00000333244.5	-	7	7876	c.7757T>C	c.(7756-7758)cTa>cCa	p.L2586P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2586						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGACATCTAGCTGGGGGCC	0.627000													42	216					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695193	247695193	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:247695193A>T	ENST00000366487.3	-	2	982	c.621T>A	c.(619-621)ttT>ttA	p.F207L	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCAGGACAACAAAGACAAAGC	0.537000													6	60					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898639	37898639	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr17:37898639C>T	ENST00000309156.4	+	2	342	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.R29W|GRB7_ENST00000394204.1_Missense_Mutation_p.R29W|GRB7_ENST00000394209.2_Missense_Mutation_p.R29W|GRB7_ENST00000445327.2_Missense_Mutation_p.R52W|GRB7_ENST00000394211.3_Missense_Mutation_p.R29W	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	29					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGACTCCCCGGCCCCCTGA	0.642000													24	97					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105688	168105688	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:168105688G>T	ENST00000409195.1	+	9	7875	c.7786G>T	c.(7786-7788)Gtt>Ttt	p.V2596F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2374F|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2596F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2421					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATGAGGAGGTTTCCCTATC	0.408000													6	93					0.000151284	0.000177911	1	1	0
TTC17	55761	broad.mit.edu	37	11	43413036	43413036	+	Silent	SNP	A	A	T	rs148543674		TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:43413036A>T	ENST00000039989.4	+	4	455	c.441A>T	c.(439-441)acA>acT	p.T147T	TTC17_ENST00000299240.6_Silent_p.T147T|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	147							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATATAGACACAGAATCTCCTG	0.333000													9	72					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132397	59132397	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr11:59132397G>T	ENST00000313940.2	+	1	513	c.466G>T	c.(466-468)Gct>Tct	p.A156S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TGGCCTCACTGCTTCTTTATT	0.463000													31	128					1.55811e-20	2.51695e-20	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120462955	120462955	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr1:120462955C>A	ENST00000256646.2	-	30	5595	c.5376G>T	c.(5374-5376)caG>caT	p.Q1792H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1792					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAAGGTGCTGCTGTGTCC	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				11	62					3.03607e-14	4.69792e-14	1	1	0
CAMK2B	816	broad.mit.edu	37	7	44266159	44266159	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr7:44266159G>T	ENST00000395749.2	-	20	1629	c.1553C>A	c.(1552-1554)cCg>cAg	p.P518Q	CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000347193.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	518					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGGCAGGGCGGGGGCCCCAC	0.701000													9	7					0.000274275	0.000312546	1	1	0
KCNF1	3754	broad.mit.edu	37	2	11053814	11053814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr2:11053814delC	ENST00000295082.1	+	1	1752	c.1262delC	c.(1261-1263)acfs	p.T421fs		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GTCCTGGAGACCGCGGCCAAG	0.617													7	40	---	---	---	---					
RFC4	5984	broad.mit.edu	37	3	186507965	186507966	+	Frame_Shift_Ins	INS	-	-	CAGA			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr3:186507965_186507966insCAGA	ENST00000392481.2	-	10	1242_1243	c.961_962insTCTG	c.(961-963)taafs	p.*321fs	RFC4_ENST00000433496.1_Frame_Shift_Ins_p.*294fs|RFC4_ENST00000296273.2_Frame_Shift_Ins_p.*321fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	321					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTTCTGTTTATCAGATAAGTTA	0.337													7	61	---	---	---	---					
TMPRSS11A	339967	broad.mit.edu	37	4	68795617	68795617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr4:68795617delG	ENST00000508048.1	-	5	494	c.459delC	c.(457-459)gcfs	p.A153fs	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.A154fs|TMPRSS11A_ENST00000334830.7_Frame_Shift_Del_p.A157fs			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	157	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GAACTGATGAGGCATTTATTG	0.368													8	104	---	---	---	---					
TRAM1L1	133022	broad.mit.edu	37	4	118006146	118006147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr4:118006146_118006147insA	ENST00000310754.4	-	1	589_590	c.403_404insT	c.(403-405)gggfs	p.G135fs		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	135	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAATGTGCCCCAAATACAAGAA	0.371													15	99	---	---	---	---					
EPHB4	2050	broad.mit.edu	37	7	100417234	100417234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr7:100417234delG	ENST00000358173.3	-	6	1710	c.1242delC	c.(1240-1242)tcfs	p.S414fs	EPHB4_ENST00000360620.3_Frame_Shift_Del_p.S414fs|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	414	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGTGGCTAAGGAGGATACCC	0.632													7	86	---	---	---	---					
IGHV2-70	28454	broad.mit.edu	37	14	107179086	107179086	+	RNA	DEL	C	C	-			TCGA-50-8459-01A-11D-2323-08	TCGA-50-8459-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3e96f8f-ccd1-4caa-a66b-703d27e0402d	ab058faa-934d-4331-9e43-530024ad4d02	g.chr14:107179086delC	ENST00000390634.2	-	0	166																											GTGGGTTTCACCAGCGCAGGA	0.527													11	78	---	---	---	---					
