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
C1orf168	199920	broad.mit.edu	37	1	57207840	57207840	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:57207840T>C	ENST00000343433.6	-	12	1678	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	533										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCACTCTATCTTTGGGTAGTT	0.378000													42	46					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620255	77620255	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:77620255G>A	ENST00000521891.2	+	3	3513	c.3065G>A	c.(3064-3066)aGg>aAg	p.R1022K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R996K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R996K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R996K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	996						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)			ACCAATCACAGGCACGAGGCG	0.463000										HNSCC(33;0.089)			28	41					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084409	248084409	+	Silent	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:248084409G>T	ENST00000319968.4	+	1	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATGGTTCTGAGTATCGTTT	0.473000													28	41					6.12954e-19	7.13911e-19	1	1	0
GDPD4	220032	broad.mit.edu	37	11	76940221	76940221	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:76940221A>G	ENST00000315938.4	-	14	1696	c.1446T>C	c.(1444-1446)ttT>ttC	p.F482F	GDPD4_ENST00000376217.2_Silent_p.F482F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	482					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TGGCAACAATAAAAAGCACAG	0.284000													9	15					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48652249	48652249	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:48652249G>T	ENST00000376670.3	+	6	1031	c.920G>T	c.(919-921)cGc>cTc	p.R307L	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	307					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACTCGAAACCGCAAGGCATCT	0.587000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								6	10					0.00116845	0.00120496	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56423785	56423785	+	Silent	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:56423785T>A	ENST00000588751.1	-	5	1422	c.1398A>T	c.(1396-1398)acA>acT	p.T466T	NLRP13_ENST00000342929.3_Silent_p.T466T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	466	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTACCTCTGCTGTGGAGAACA	0.498000													45	43					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29385406	29385406	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:29385406G>A	ENST00000558402.1	+	8	1797	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	APBA2_ENST00000411764.1_Missense_Mutation_p.A400T|APBA2_ENST00000558330.1_Missense_Mutation_p.A400T|APBA2_ENST00000561069.1_Missense_Mutation_p.A400T|APBA2_ENST00000558259.1_Missense_Mutation_p.A400T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	400	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCGCAGGAGGCCGTCAGCCG	0.602000													7	12					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718376	142718376	+	Silent	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:142718376C>A	ENST00000381779.4	-	2	774	c.549G>T	c.(547-549)ctG>ctT	p.L183L	SLITRK4_ENST00000356928.1_Silent_p.L183L|SLITRK4_ENST00000338017.4_Silent_p.L183L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	183						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTCGTATATCCAGATGGGTCA	0.418000													34	75					1.74807e-11	1.96658e-11	1	1	0
ACBD4	79777	broad.mit.edu	37	17	43220896	43220896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:43220896C>A	ENST00000431281.1	+	12	1383	c.914C>A	c.(913-915)tCg>tAg	p.S305*	ACBD4_ENST00000592162.1_Missense_Mutation_p.R246S|ACBD4_ENST00000398322.3_Silent_p.V292V|ACBD4_ENST00000591859.1_Nonsense_Mutation_p.S305*|ACBD4_ENST00000586346.1_Nonsense_Mutation_p.S305*|ACBD4_ENST00000321854.8_Silent_p.V292V	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GGCCCTTCGTCGTCCAGTGGC	0.637000													15	53					0.000422831	0.000440635	1	1	0
SERPINB11	89778	broad.mit.edu	37	18	61377439	61377439	+	RNA	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr18:61377439C>G	ENST00000544088.1	+	0	74				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.L4L(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGGTTCTCTCAGCACAGCTA	0.388000											OREG0003822	type=REGULATORY REGION|Gene=SERPINB11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	5					0	0	1	0	0
PLAC1	10761	broad.mit.edu	37	X	133700499	133700499	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:133700499G>T	ENST00000359237.4	-	3	499	c.214C>A	c.(214-216)Cag>Aag	p.Q72K	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	72					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TAGGTGAACTGGTAGGCGTGT	0.502000													39	74					5.71845e-15	6.58287e-15	1	1	0
DMD	1756	broad.mit.edu	37	X	32591714	32591714	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:32591714A>T	ENST00000357033.4	-	15	1951	c.1745T>A	c.(1744-1746)gTg>gAg	p.V582E	DMD_ENST00000378677.2_Missense_Mutation_p.V578E|DMD_ENST00000288447.4_Missense_Mutation_p.V574E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	582					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATCTTGTTCACTGCATCTTC	0.318000													14	53					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25044608	25044608	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:25044608G>A	ENST00000216336.2	-	2	102	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	22	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCCGGCCTCCGATGATCTCCC	0.577000													22	45					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170488321	170488321	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:170488321G>T	ENST00000260970.3	+	11	1027	c.807G>T	c.(805-807)caG>caT	p.Q269H	PPIG_ENST00000462903.1_Missense_Mutation_p.Q269H|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.Q254H|PPIG_ENST00000448752.2_Missense_Mutation_p.Q269H	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	269					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CACAACCCCAGTCTACTGTCC	0.408000													24	59					1.04121e-07	1.13691e-07	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50582551	50582551	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr22:50582551G>A	ENST00000262794.5	+	18	2467	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R795Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R775Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R795Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	795					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCGGACAGTCGGATTTTAGTC	0.562000													76	107					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1313186	1313186	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr10:1313186G>A	ENST00000381312.1	-	4	1481	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	386					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCTTTATGGCGGGCGTGCATG	0.537000													8	9					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223981037	223981037	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:223981037C>T	ENST00000391878.2	-	15	3211	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E177K|TP53BP2_ENST00000343537.7_Missense_Mutation_p.E944K	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	938					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGGTCAAATTCTCCCTCCAAA	0.393000													34	40					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995399	61995399	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:61995399C>A	ENST00000323322.5	-	3	311	c.269G>T	c.(268-270)aGg>aTg	p.R90M	GH1_ENST00000458650.2_Missense_Mutation_p.R75M|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	90					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGTTTCCTCCCTGTTGGAGGG	0.557000													65	77					1.12357e-39	1.32949e-39	1	1	0
CRYBB1	1414	broad.mit.edu	37	22	27008087	27008087	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr22:27008087A>G	ENST00000215939.2	-	3	378	c.248T>C	c.(247-249)cTg>cCg	p.L83P		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	83	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACGGTCTGCCAGATTTGAGCA	0.602000													16	60					0	0	1	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947633	40947633	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:40947633G>A	ENST00000322354.3	-	2	851	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	SERTAD3_ENST00000392028.4_Missense_Mutation_p.L119F	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	119					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGAGGCCAAGGGGAGTCACT	0.572000													18	35					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62321110	62321110	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:62321110C>T	ENST00000318100.4	+	24	2860	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	RTEL1_ENST00000370018.3_Missense_Mutation_p.S678F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S678F|RTEL1_ENST00000508582.2_Missense_Mutation_p.S702F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S678F	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	678					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.S678C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGTTCCTCTCTGGGCAGGAG	0.697000													4	13					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014231	21014231	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:21014231A>G	ENST00000247986.2	-	8	1898	c.1588T>C	c.(1588-1590)Tcc>Ccc	p.S530P	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.S430P|KIF17_ENST00000400463.3_Missense_Mutation_p.S530P			Q9P2E2	KIF17_HUMAN	kinesin family member 17	530					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCAGATTTGGAGGGTTCCACC	0.567000													21	47					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762783	176762783	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:176762783G>T	ENST00000367662.3	+	20	6272	c.5108G>T	c.(5107-5109)tGg>tTg	p.W1703L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1703	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGAGCACTGGATGGAACCT	0.478000													25	29					9.04412e-07	9.73226e-07	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216413	20216413	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:20216413A>G	ENST00000331723.1	+	1	827	c.827A>G	c.(826-828)tAc>tGc	p.Y276C		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y276C(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTGTTTTACACAGTGATT	0.428000													31	111					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850179	20850179	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:20850179C>T	ENST00000262715.5	-	30	4357	c.4317G>A	c.(4315-4317)cgG>cgA	p.R1439R	TEP1_ENST00000556935.1_Silent_p.R1331R|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1439	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCGGTAGTGTCCGCCACACAC	0.597000													9	22					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77652990	77652990	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr13:77652990T>C	ENST00000407578.2	-	66	11719	c.11453A>G	c.(11452-11454)aAa>aGa	p.K3818R	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K3780R|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K3780R|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3780	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTACTGCTTTGCCAGTTAA	0.333000													52	92					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19465235	19465235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:19465235G>A	ENST00000262815.8	+	17	1659	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	MAU2_ENST00000392313.6_Nonsense_Mutation_p.W540*			Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	540					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TACAGCTGTGGTCGTCAGCAC	0.612000													3	28					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134086987	134086987	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:134086987G>C	ENST00000534548.2	-	3	289	c.225C>G	c.(223-225)atC>atG	p.I75M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	75					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGAAGGTCCAGATACTCTGTG	0.363000													3	24					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40699741	40699741	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:40699741T>C	ENST00000298910.7	+	28	3990	c.3932T>C	c.(3931-3933)aTa>aCa	p.I1311T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1311					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTAAACATATAGGATGTAAA	0.308000													17	21					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745888	77745888	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:77745888T>A	ENST00000409088.3	-	3	1521	c.1107A>T	c.(1105-1107)gaA>gaT	p.E369D	LRRTM4_ENST00000409911.1_Missense_Mutation_p.E370D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E369D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E369D|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E370D	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	369						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTGTGATCTTTCTGTGTTGA	0.468000													14	17					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65983319	65983319	+	Missense_Mutation	SNP	T	T	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:65983319T>G	ENST00000443035.3	-	23	3825	c.3610A>C	c.(3610-3612)Act>Cct	p.T1204P	DENND4A_ENST00000431932.2_Missense_Mutation_p.T1161P	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCGACATCAGTTTTTTCAAAA	0.408000													8	16					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51215333	51215333	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:51215333G>A	ENST00000293441.1	-	6	849	c.831C>T	c.(829-831)gaC>gaT	p.D277D	SHANK1_ENST00000391814.1_Silent_p.D277D|SHANK1_ENST00000359082.3_Silent_p.D277D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	277					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCCCGACGGTCCTTGTAGT	0.597000													14	50					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188545	140188545	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:140188545G>A	ENST00000530339.1	+	1	1773	c.1773G>A	c.(1771-1773)gtG>gtA	p.V591V	PCDHA4_ENST00000512229.2_Silent_p.V591V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.V591V	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGTGGTGGCAAAGGTGC	0.687000													18	43					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786100	112786100	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:112786100G>C	ENST00000295408.4	+	19	2916	c.2659G>C	c.(2659-2661)Ggc>Cgc	p.G887R	MERTK_ENST00000409780.1_Missense_Mutation_p.G711R|MERTK_ENST00000421804.2_Missense_Mutation_p.G887R			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	887					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCTGGCCCAGGGCTCCACCCT	0.527000													41	53					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72935149	72935149	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:72935149C>G	ENST00000262209.4	-	27	3559	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1118						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTAAGGCTCAAGATGGTGT	0.423000													17	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024858	9024858	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:9024858T>C	ENST00000397910.4	-	16	37207	c.37004A>G	c.(37003-37005)tAc>tGc	p.Y12335C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12337	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGGGTGTAGGGGCCCAG	0.532000													43	41					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932582	44932582	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:44932582C>T	ENST00000291187.4	-	6	2678	c.2356G>A	c.(2356-2358)Gga>Aga	p.G786R	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.G792R|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGCTTCTCTCCAGTGTGGACT	0.502000													12	60					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877760	96877760	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:96877760G>A	ENST00000394166.3	+	2	2287	c.898G>A	c.(898-900)Gag>Aag	p.E300K	NR2F2_ENST00000394171.2_Missense_Mutation_p.E147K|NR2F2_ENST00000421109.2_Missense_Mutation_p.E167K|NR2F2_ENST00000453270.2_Missense_Mutation_p.E147K	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	300	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGAGCAAGTGGAGAAGCTCAA	0.627000													6	20					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16779716	16779716	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:16779716T>A	ENST00000513610.1	-	9	1322	c.868A>T	c.(868-870)Aat>Tat	p.N290Y		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	290	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGACTGATTCAAGTAGTGG	0.343000													4	14					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90630733	90630733	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:90630733C>T	ENST00000330062.3	-	6	866	c.753G>A	c.(751-753)aaG>aaA	p.K251K	IDH2_ENST00000559482.1_Silent_p.K142K|IDH2_ENST00000540499.2_Silent_p.K199K|IDH2_ENST00000539790.1_Silent_p.K121K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	251		Critical for catalysis (By similarity).			2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTATGGTGTTCTTGGTGCTCA	0.522000			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	55					0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919191	56919191	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:56919191G>C	ENST00000370733.4	+	4	2101	c.1894G>C	c.(1894-1896)Gat>Cat	p.D632H	KIAA1586_ENST00000545356.1_Missense_Mutation_p.D605H	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	632							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAATTACTTTGATTTGCTGGA	0.313000													10	20					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995392	4995392	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:4995392C>T	ENST00000318833.3	+	2	929	c.593C>T	c.(592-594)gCt>gTt	p.A198V		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AAACCCTTTGCTTGTAATGAA	0.398000													51	11					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78433751	78433751	+	Silent	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:78433751G>T	ENST00000278550.7	-	24	4224	c.3762C>A	c.(3760-3762)atC>atA	p.I1254I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAGAGGGGAAGATCCTTCTAA	0.512000													17	42					5.35267e-07	5.80198e-07	1	1	0
SLC6A15	55117	broad.mit.edu	37	12	85257241	85257241	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:85257241A>G	ENST00000266682.5	-	11	2336	c.1795T>C	c.(1795-1797)Tat>Cat	p.Y599H	SLC6A15_ENST00000309283.7_Missense_Mutation_p.Y307H|SLC6A15_ENST00000552192.1_Missense_Mutation_p.Y492H	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	599					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CATGCGTTATAGCCAGGAGGA	0.308000													45	88					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81259266	81259266	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:81259266C>T	ENST00000555265.1	-	14	1773	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	CEP128_ENST00000281129.3_Silent_p.Q466Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	466						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTCTGACTGCTGGAGCTCAC	0.537000													21	50					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16779717	16779717	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:16779717C>T	ENST00000513610.1	-	9	1321	c.867G>A	c.(865-867)ttG>ttA	p.L289L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	289	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGACTGATTCAAGTAGTGGT	0.343000													4	14					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560093	44560093	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr18:44560093A>G	ENST00000332567.4	-	1	1895	c.1543T>C	c.(1543-1545)Tac>Cac	p.Y515H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	515	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGCCCGAGTACACCGGCATC	0.617000													16	18					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530771	190530771	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:190530771A>G	ENST00000607829.1	+	4	225	c.225A>G	c.(223-225)atA>atG	p.I75M	ASNSD1_ENST00000607690.1_Missense_Mutation_p.Y60C|ASNSD1_ENST00000607062.1_5'UTR|ASNSD1_ENST00000607535.1_Missense_Mutation_p.Y42C|ASNSD1_ENST00000260952.4_5'UTR			Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	0	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CAACAGATATATTGGATGAAC	0.318000													12	14					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202733249	202733249	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:202733249C>T	ENST00000367265.3	-	6	1900	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E282K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	246					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTGTCTCCTCGGGTTCTATT	0.328000													20	37					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35978337	35978337	+	Splice_Site	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:35978337T>A	ENST00000349699.2	-	14	1785	c.1742A>T	c.(1741-1743)cAg>cTg	p.Q581L	DDX52_ENST00000394367.3_Splice_Site_p.Q473L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	581	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ACATACTTACTGTTTATCCTT	0.303000													36	14					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071873	73071873	+	RNA	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:73071873C>A	ENST00000429829.1	-	0	715					NR_001564.2																						CAGGTATCCGCGGCCCCGATG	0.428000													9	9					0.000274275	0.00028683	1	1	0
CLEC4A	50856	broad.mit.edu	37	12	8289484	8289484	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:8289484A>G	ENST00000229332.5	+	5	798	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	CLEC4A_ENST00000352620.3_Missense_Mutation_p.Y151C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.Y145C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.Y112C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	184	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CAGACACCATACAATGAAAGT	0.413000													17	28					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38954077	38954077	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:38954077C>T	ENST00000355481.4	+	21	2723	c.2592C>T	c.(2590-2592)ccC>ccT	p.P864P	RYR1_ENST00000359596.3_Silent_p.P864P|RYR1_ENST00000360985.3_Silent_p.P864P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	864	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCTGCCGCCCCATCTGGAGC	0.622000													8	15					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827106	5827106	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:5827106T>C	ENST00000381095.3	-	4	1427	c.800A>G	c.(799-801)cAc>cGc	p.H267R	NLGN4X_ENST00000381092.1_Missense_Mutation_p.H267R|NLGN4X_ENST00000381093.2_Missense_Mutation_p.H287R|NLGN4X_ENST00000275857.6_Missense_Mutation_p.H267R|NLGN4X_ENST00000538097.1_Missense_Mutation_p.H267R	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	267					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTCTGAGTAGTGGGACAGGGT	0.552000													9	16					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709223	176709223	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:176709223C>T	ENST00000367662.3	+	14	5206	c.4042C>T	c.(4042-4044)Cca>Tca	p.P1348S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1348					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTCATCCCCACGGGTCGG	0.517000													6	29					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59894553	59894553	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr18:59894553A>G	ENST00000256858.6	+	6	1138	c.890A>G	c.(889-891)aAc>aGc	p.N297S	KIAA1468_ENST00000398130.2_Missense_Mutation_p.N297S			Q9P260	K1468_HUMAN	KIAA1468	297							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTAGGATTAAACATTCCAAAA	0.308000													17	25					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752308	62752308	+	RNA	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:62752308A>G	ENST00000331425.6	-	0	1127					NR_003952.1																						AGTCTTGGCCACATTCTTCAT	0.433000													16	39					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415842	130415842	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:130415842G>A	ENST00000370904.1	-	14	2206	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	IGSF1_ENST00000361420.3_Silent_p.C441C|IGSF1_ENST00000370910.1_Silent_p.C432C|IGSF1_ENST00000370903.3_Silent_p.C441C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	441	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGATACTCGGCACTGAAGGG	0.463000													8	30					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043710	77043710	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:77043710G>A	ENST00000339142.2	+	5	941	c.386G>A	c.(385-387)gGg>gAg	p.G129E	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G129E|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G139E|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G129E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G47E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G129E|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G129E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G129E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G129E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G47E	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	129	Collagen-like.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GGACCCAAAGGGCAGAAGGGC	0.627000													39	16					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762816	53762816	+	Nonstop_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:53762816A>G	ENST00000341702.3	+	1	1272	c.1188A>G	c.(1186-1188)tgA>tgG	p.*396W	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	0					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GGAAAATGTGAATTGGCTGTC	0.458000													38	46					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122392	36122392	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:36122392A>G	ENST00000296603.4	-	9	1572	c.1110T>C	c.(1108-1110)aaT>aaC	p.N370N		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	370						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAATGTAGGATTATAAAAAT	0.289000													4	29					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193534	72193534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:72193534G>A	ENST00000356056.5	-	23	3620	c.3148C>T	c.(3148-3150)Cag>Tag	p.Q1050*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1050*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1050*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1031*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q670*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1050	IQ 2.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCTCACCTGGATAATAACA	0.403000													11	22					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102326096	102326096	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:102326096G>T	ENST00000438793.3	+	15	2074	c.1604G>T	c.(1603-1605)tGg>tTg	p.W535L	PAM_ENST00000304400.7_Missense_Mutation_p.W535L|PAM_ENST00000455264.2_Missense_Mutation_p.W535L|PAM_ENST00000346918.2_Missense_Mutation_p.W535L|PAM_ENST00000274392.9_Missense_Mutation_p.W438L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000348126.2_Missense_Mutation_p.W428L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	535	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GACCATGTCTGGGATGGAAAG	0.373000													14	20					1.05317e-09	1.1715e-09	1	1	0
TBX5	6910	broad.mit.edu	37	12	114836427	114836427	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:114836427G>A	ENST00000310346.4	-	5	1127	c.461C>T	c.(460-462)tCc>tTc	p.S154F	TBX5_ENST00000349716.5_Missense_Mutation_p.S104F|TBX5_ENST00000405440.2_Missense_Mutation_p.S154F|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.S154F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	154					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTCTGGAAGGAGACGAGCTG	0.622000													6	11					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116562	44116562	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:44116562G>C	ENST00000259746.9	+	15	1476	c.1293G>C	c.(1291-1293)tgG>tgC	p.W431C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.W431C			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	431						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCATCTGGTGGCTGCGCTGCC	0.577000													18	23					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375037	16375037	+	Silent	SNP	G	G	A	rs142452354	byFrequency	TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:16375037G>A	ENST00000375679.4	+	7	726	c.615G>A	c.(613-615)gcG>gcA	p.A205A		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCAGCGGCGGCAGTGGGCG	0.642000													11	18					0	0	1	0	0
FAXDC2	10826	broad.mit.edu	37	5	154199987	154199987	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:154199987A>G	ENST00000326080.5	-	9	1314	c.891T>C	c.(889-891)caT>caC	p.H297H	FAXDC2_ENST00000517938.1_Silent_p.H274H	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		TGTCAGTCCCATGGAGGTGGT	0.587000													12	18					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887267	86887267	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:86887267C>A	ENST00000373119.4	+	7	1527	c.1382C>A	c.(1381-1383)aCc>aAc	p.T461N	KLHL4_ENST00000373114.4_Missense_Mutation_p.T461N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	461						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATATTGGCACCATGAATGGC	0.393000													9	29					7.48243e-07	8.08102e-07	1	1	0
CLSTN3	9746	broad.mit.edu	37	12	7302253	7302253	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:7302253G>A	ENST00000537408.1	+	13	2783	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E737K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	737					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCGGGGGCTGGAGCTCACCAA	0.592000													5	16					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39931887	39931887	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:39931887A>G	ENST00000342274.4	-	4	3074	c.2712T>C	c.(2710-2712)ccT>ccC	p.P904P	BCOR_ENST00000378455.4_Silent_p.P904P|BCOR_ENST00000378444.4_Silent_p.P904P|BCOR_ENST00000397354.3_Silent_p.P904P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	904					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGCTCCCCAGAGGTGGCTCCA	0.537000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						22	30					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55176287	55176287	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:55176287C>T	ENST00000391736.1	+	7	1008	c.693C>T	c.(691-693)tcC>tcT	p.S231S	LILRB4_ENST00000391734.3_Silent_p.S231S|LILRB4_ENST00000270452.2_Silent_p.S231S|LILRB4_ENST00000391733.3_Silent_p.S231S|LILRB4_ENST00000430952.2_Silent_p.S231S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	231						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCACAAGGTCCGTCTCAACAG	0.557000													5	17					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115097	168115097	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:168115097A>G	ENST00000409728.1	+	11	2229	c.2140A>G	c.(2140-2142)Aat>Gat	p.N714D	XIRP2_ENST00000409043.1_Missense_Mutation_p.N681D|XIRP2_ENST00000409756.2_Missense_Mutation_p.N681D|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.N459D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.N714D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						TAACCAAACTAATGGTGCAGA	0.313000													20	34					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133836458	133836458	+	Splice_Site	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:133836458G>A	ENST00000367895.5	+	17	1965		c.e17-1		RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000355286.6_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGTGTTGCAGGACTCCTTGG	0.428000													30	52					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	61975326	61975326	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr3:61975326C>T	ENST00000474889.1	+	3	595	c.218C>T	c.(217-219)aCg>aTg	p.T73M	PTPRG_ENST00000295874.10_Missense_Mutation_p.T73M	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	73	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CACTGGGTCACGTCTAGTGTC	0.493000													12	42					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970199	63970199	+	Silent	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:63970199G>C	ENST00000443617.2	-	37	7002	c.6915C>G	c.(6913-6915)ccC>ccG	p.P2305P	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2305					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGCCAGCACGGGCCACACCT	0.547000													16	21					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45936825	45936825	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr10:45936825A>G	ENST00000374391.2	+	9	1272	c.1219A>G	c.(1219-1221)Atc>Gtc	p.I407V	ALOX5_ENST00000542434.1_Missense_Mutation_p.I407V	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	407	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CACCATTGCAATCAACACCAA	0.627000													32	52					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98781136	98781136	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr10:98781136G>A	ENST00000266058.4	-	26	2862	c.2617C>T	c.(2617-2619)Cac>Tac	p.H873Y	SLIT1_ENST00000371070.4_Missense_Mutation_p.H873Y|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	873	LRRCT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGCGGAGGTGGCAGTCACAG	0.602000													6	17					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9466718	9466718	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:9466718G>C	ENST00000379719.3	+	25	3236	c.3094G>C	c.(3094-3096)Ggc>Cgc	p.G1032R		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1032					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAATTTTGGAGGCCCAGCACC	0.408000													15	21					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057909	17057909	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:17057909G>A	ENST00000443236.1	-	21	2809	c.2778C>T	c.(2776-2778)agC>agT	p.S926S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	879						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTCCCAGGTCGCTGAAGGACA	0.597000													35	74					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393021	50393021	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:50393021G>A	ENST00000595948.1	-	10	2296	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	IL4I1_ENST00000341114.3_Missense_Mutation_p.P559L|IL4I1_ENST00000391826.2_Missense_Mutation_p.P537L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	537						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GTCATGCGAGGGGCTGCTGGC	0.612000													11	31					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2351574	2351574	+	RNA	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:2351574G>A	ENST00000452401.2	+	0	1574							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGTTCTGGACGGGCAGCG	0.607000													24	28					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695367	247695367	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:247695367G>A	ENST00000366487.3	-	2	808	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	149					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)			CCCCCAGCCAGGAGGCCAAAG	0.572000													5	11					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364618	29364618	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:29364618A>G	ENST00000383555.2	+	1	203	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GATGATTGTCATCTCCGATCC	0.458000													29	52					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415619	30415619	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr22:30415619A>G	ENST00000333027.3	+	17	2299	c.1971A>G	c.(1969-1971)ggA>ggG	p.G657G	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000401950.2_Silent_p.G657G|MTMR3_ENST00000323630.5_Silent_p.G521G|MTMR3_ENST00000351488.3_Silent_p.G657G|MTMR3_ENST00000406629.1_Silent_p.G657G|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	657					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGGCCCTGGAGAGGATCCCC	0.667000													26	45					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003366	20003366	+	Nonsense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:20003366C>G	ENST00000589717.1	+	4	1402	c.1310C>G	c.(1309-1311)tCa>tGa	p.S437*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S361*|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	437				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGCATCCTCAACTCTAACT	0.388000													10	69					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597637	62597637	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:62597637G>A	ENST00000450537.1	-	5	951	c.891C>T	c.(889-891)agC>agT	p.S297S	ZNF512B_ENST00000217130.3_Silent_p.S297S|ZNF512B_ENST00000369888.1_Silent_p.S297S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAATGGGCCTGCTGACTGTCA	0.567000													113	111					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133359053	133359053	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:133359053C>T	ENST00000204726.3	-	17	3852	c.3294G>A	c.(3292-3294)aaG>aaA	p.K1098K	GOLGA3_ENST00000456883.2_Silent_p.K1098K|GOLGA3_ENST00000450791.2_Silent_p.K1098K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1098					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTTTATCTTCTTCCTAAAGC	0.473000													37	72					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131979528	131979528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:131979528G>A	ENST00000414305.1	+	7	858	c.530G>A	c.(529-531)tGg>tAg	p.W177*	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Nonsense_Mutation_p.W177*|ENPP3_ENST00000543135.1_Nonsense_Mutation_p.W143*|ENPP3_ENST00000427148.2_Nonsense_Mutation_p.W143*|ENPP3_ENST00000357639.3_Nonsense_Mutation_p.W177*			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	177	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTATACACATGGGATACTTTA	0.348000													15	28					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570763	102570763	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:102570763C>T	ENST00000251808.3	+	4	739	c.401C>T	c.(400-402)tCc>tTc	p.S134F	GRHL2_ENST00000395927.1_Missense_Mutation_p.S118F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	134						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGGAGAATTCCAAGCGGGAA	0.493000													26	53					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937492	67937492	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:67937492C>T	ENST00000252336.6	+	5	868	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	STARD8_ENST00000374597.3_Missense_Mutation_p.R166C|STARD8_ENST00000374599.3_Missense_Mutation_p.R246C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	166					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTCATCTTTCCGCAGTTGTCG	0.577000													7	19					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489409	20489409	+	RNA	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:20489409A>G	ENST00000555186.1	+	0	397					NR_038836.1																						TTCTCTGAGCACAGGACTCAA	0.408000													16	96					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101645608	101645608	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr10:101645608C>T	ENST00000342239.3	-	14	3797	c.3706G>A	c.(3706-3708)Ggc>Agc	p.G1236S	DNMBP_ENST00000543621.1_Missense_Mutation_p.G458S|DNMBP_ENST00000324109.4_Missense_Mutation_p.G1212S|DNMBP_ENST00000540316.1_Missense_Mutation_p.G148S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1212					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCCTCTCTGCCAGCCACTTTG	0.458000													9	3					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709325	176709325	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:176709325G>A	ENST00000367662.3	+	14	5308	c.4144G>A	c.(4144-4146)Gga>Aga	p.G1382R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1382					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATCATCAGGGACAGAGGTA	0.473000													4	15					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925184	105925184	+	Splice_Site	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:105925184T>C	ENST00000526793.1	-	3	393		c.e3-2		KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000534815.1_Splice_Site	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3											NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AACATAGCCCTGCAAAAATAA	0.303000													9	18					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167742599	167742599	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:167742599A>T	ENST00000359523.2	+	4	801	c.599A>T	c.(598-600)tAc>tTc	p.Y200F	MPZL1_ENST00000474859.1_Missense_Mutation_p.Y200F|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	200					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AAACGGGATTACACTGGGTAA	0.418000													11	30					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Silent	SNP	C	C	A	rs114936842	by1000genomes	TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:9784853C>A	ENST00000304374.2	+	1	1596	c.1200C>A	c.(1198-1200)atC>atA	p.I400I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAAGACATCGTCTTCCACA	0.592000													10	20					4.68919e-08	5.13907e-08	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50054197	50054197	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:50054197G>A	ENST00000376042.1	+	6	3326	c.3028G>A	c.(3028-3030)Gaa>Aaa	p.E1010K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E1010K|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1010					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATTCCTCTTCGAAGATATGAT	0.493000													27	56					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863479	128863479	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:128863479G>A	ENST00000274487.4	+	5	1252	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	369	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAGTGTGCAGGTCAATCTTC	0.294000													26	63					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581183	25581183	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:25581183A>G	ENST00000329474.6	+	30	3142	c.2774A>G	c.(2773-2775)cAt>cGt	p.H925R		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	925					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGAGTATCCATAGCCGAATG	0.408000													4	8					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309072	38309072	+	Missense_Mutation	SNP	T	T	C	rs147107058		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr21:38309072T>C	ENST00000399120.1	-	5	1903	c.673A>G	c.(673-675)Att>Gtt	p.I225V	HLCS_ENST00000336648.4_Missense_Mutation_p.I225V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	225					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTTCGGGAATGGACTCCCTG	0.522000													12	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399246	179399246	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:179399246A>G	ENST00000589042.1	-	358	102320	c.102096T>C	c.(102094-102096)taT>taC	p.Y34032Y	TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Silent_p.Y25092Y|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.Y32391Y|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.Y25159Y|TTN_ENST00000460472.2_Silent_p.Y24967Y|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Y31464Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32391	Ig-like 150.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCGAAAGTATATTCAGCAT	0.413000													25	59					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121282335	121282335	+	Silent	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:121282335T>C	ENST00000297848.3	+	26	3405	c.3135T>C	c.(3133-3135)gaT>gaC	p.D1045D	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.D950D|COL14A1_ENST00000309791.4_Silent_p.D1045D	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1045	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCATTGGAGATGAAAATTTCA	0.413000													16	36					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30699658	30699658	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:30699658C>T	ENST00000256246.2	-	1	6950	c.6876G>A	c.(6874-6876)acG>acA	p.T2292T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2292										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGGGCAACATCGTAGAAATAC	0.338000													23	64					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139316858	139316858	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:139316858C>T	ENST00000280098.4	+	7	1044	c.665C>T	c.(664-666)tCt>tTt	p.S222F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	222	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ACAGCTCGATCTCCAGTTTTT	0.303000													10	16					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36678779	36678779	+	Missense_Mutation	SNP	C	C	A	rs140588099	byFrequency	TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr22:36678779C>A	ENST00000216181.5	-	41	6048	c.5818G>T	c.(5818-5820)Ggg>Tgg	p.G1940W		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1940					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GAGCCATCCCCGGCGCCTTTC	0.662000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	44					0.150653	0.151162	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55155224	55155224	+	Silent	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:55155224C>G	ENST00000257290.5	+	21	3154	c.2823C>G	c.(2821-2823)ccC>ccG	p.P941P	FIP1L1_ENST00000507166.1_Silent_p.P701P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	941	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGAAGAGACCCTCCTTTTACC	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	10					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70990708	70990708	+	Splice_Site	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:70990708G>A	ENST00000357250.6	-	9	1069	c.911C>T	c.(910-912)cCg>cTg	p.P304L	COL9A1_ENST00000370496.3_Splice_Site_p.P304L|COL9A1_ENST00000320755.7_Splice_Site_p.P61L|COL9A1_ENST00000370499.4_Splice_Site_p.P61L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	304	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCAACTTACCGGGGGGCCCGG	0.567000													19	32					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	852926	852926	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:852926G>A	ENST00000590230.1	+	3	259	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	ELANE_ENST00000263621.1_Missense_Mutation_p.A40T			P08246	ELNE_HUMAN	elastase, neutrophil expressed	40	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCGGCCCCACGCGTGGCCCTT	0.721000													5	1					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187689	152187689	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:152187689C>G	ENST00000368801.2	-	3	6491	c.6416G>C	c.(6415-6417)aGa>aCa	p.R2139T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					keratinization		calcium ion binding|protein binding	p.R2139I(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGATCTAGAGCCGTG	0.577000													57	1147					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111428123	111428123	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:111428123C>T	ENST00000535254.1	-	4	452	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	BUB1_ENST00000409311.1_Missense_Mutation_p.E149K|BUB1_ENST00000302759.6_Missense_Mutation_p.E149K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	149	BUB1 N-terminal.|Necessary for interaction with CASC5.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAATGGGTTTCAGTGAGGCGT	0.343000													41	105					0	0	1	0	0
MTCP1	4515	broad.mit.edu	37	X	154294196	154294196	+	Silent	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:154294196C>A	ENST00000369476.3	-	2	669	c.90G>T	c.(88-90)gtG>gtT	p.V30V	CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Silent_p.V30V|MTCP1_ENST00000482244.1_Intron	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	30					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACGACGGCCACCCACGTGC	0.478000			T	TRA@	T cell prolymphocytic leukemia								19	44					1.2644e-06	1.3557e-06	1	1	0
SOX1	6656	broad.mit.edu	37	13	112722298	112722298	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr13:112722298C>T	ENST00000330949.1	+	1	386	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	109					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CGGCTGCGCGCGCTGCACATG	0.647000													9	16					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268077	25268077	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:25268077C>T	ENST00000328086.7	-	1	1175	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	124	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CAGTCTCTTTCTCCAAATGCA	0.473000													19	33					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897526	61897526	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:61897526G>T	ENST00000394818.3	+	4	729	c.527G>T	c.(526-528)cGc>cTc	p.R176L	INCENP_ENST00000278849.4_Missense_Mutation_p.R176L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	176					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	p.R176P(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCAGTGAGCGCCAGAATGCT	0.617000													7	22					0.00198382	0.00203873	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153144161	153144161	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:153144161T>A	ENST00000285900.5	+	12	2334	c.1991T>A	c.(1990-1992)cTg>cAg	p.L664Q	GRIA1_ENST00000518142.1_Missense_Mutation_p.L584Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.L595Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.L674Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.L664Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.L674Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	664					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACGGGACGCTGGAAGCAGGA	0.507000													6	14					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949857	27949857	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr9:27949857G>A	ENST00000379992.2	-	6	1262	c.813C>T	c.(811-813)caC>caT	p.H271H	LINGO2_ENST00000308675.3_Silent_p.H271H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	271						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTATACCAGGTGTTTAAAGG	0.478000													24	36					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729558	89729558	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:89729558A>G	ENST00000343435.5	-	9	1759	c.1223T>C	c.(1222-1224)tTa>tCa	p.L408S	GBP5_ENST00000370459.3_Missense_Mutation_p.L408S|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	408						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCCTTAAGTAAAGCCGAGCA	0.398000													53	102					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111336990	111336990	+	Missense_Mutation	SNP	G	G	T	rs150251680	byFrequency	TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:111336990G>T	ENST00000441448.2	+	8	619	c.527G>T	c.(526-528)cGc>cTc	p.R176L		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	176	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TCAAATATCCGCCTGGCTGGA	0.333000													30	56					3.73148e-12	4.21387e-12	1	1	0
RPN2	6185	broad.mit.edu	37	20	35835681	35835681	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:35835681G>A	ENST00000237530.6	+	7	1007	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RPN2_ENST00000373622.5_Silent_p.Q200Q	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	232					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTCAGGATCAGGTCATCCAGC	0.527000													11	62					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648704	75648704	+	Silent	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:75648704T>C	ENST00000361470.2	+	1	659	c.381T>C	c.(379-381)tcT>tcC	p.S127S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	127						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGTGCACCTCTGTGACGCTTG	0.672000													11	20					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183826886	183826886	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:183826886C>T	ENST00000361354.4	-	18	2254		c.e18+1		NCKAP1_ENST00000360982.2_Splice_Site	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TAAATCATTACCTGGTCACTA	0.368000													23	64					0	0	1	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127638	32127638	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr21:32127638T>C	ENST00000335093.3	-	1	108	c.59A>G	c.(58-60)tAt>tGt	p.Y20C		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	20						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						gccagagccatagccacagcc	0.537000													40	59					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097573	11097573	+	RNA	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr21:11097573C>T	ENST00000470054.1	-	0	296									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggctccaacctccagctcac	0.542000													4	39					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626777	140626777	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:140626777A>G	ENST00000231173.3	+	1	1631	c.1631A>G	c.(1630-1632)gAg>gGg	p.E544G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		544	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCAGCGAGGCGCTGGTG	0.697000													15	33					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128963081	128963081	+	Silent	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:128963081G>T	ENST00000357166.6	-	4	595	c.204C>A	c.(202-204)atC>atA	p.I68I	ZDHHC9_ENST00000371064.3_Silent_p.I68I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	68						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CAAATACAGGGATGGCAGGAG	0.498000													25	34					3.28513e-13	3.73825e-13	1	1	0
TMEM44	93109	broad.mit.edu	37	3	194331644	194331644	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr3:194331644C>T	ENST00000392432.2	-	9	1364		c.e9+1		TMEM44_ENST00000273580.7_Splice_Site|TMEM44_ENST00000473092.1_Splice_Site|TMEM44_ENST00000381975.3_Splice_Site|TMEM44_ENST00000347147.4_Splice_Site	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44							integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TGGCCACTCACCTGCTGCACA	0.562000													12	16					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580933	153580933	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:153580933G>A	ENST00000422373.1	-	39	6714	c.6466C>T	c.(6466-6468)Ctg>Ttg	p.L2156L	FLNA_ENST00000360319.4_Silent_p.L2156L|FLNA_ENST00000369856.3_Silent_p.L297L|FLNA_ENST00000369850.3_Silent_p.L2164L|FLNA_ENST00000344736.4_Silent_p.L2124L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2164					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGATTTTCAGGCTGAGGTCA	0.637000													16	28					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057325	53057325	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:53057325C>T	ENST00000359798.4	+	5	1336	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATTCCTATCTGGCAAACCA	0.378000													26	120					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678193	100678193	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:100678193C>T	ENST00000306151.4	+	3	3560	c.3496C>T	c.(3496-3498)Cct>Tct	p.P1166S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1166	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCAAGTATGCCTGTCAGCAC	0.517000													5	460					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40323588	40323588	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr18:40323588T>C	ENST00000326695.5	-	5	695	c.524A>G	c.(523-525)cAt>cGt	p.H175R	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	175					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTAAGCCATGAAAAGCATC	0.423000													12	29					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114806	71114806	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:71114806C>A	ENST00000304954.3	+	4	265	c.179C>A	c.(178-180)aCc>aAc	p.T60N		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	60						extracellular region	protein binding	p.T60N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TATTATGGAACCAATTTGTAC	0.388000													15	26					5.01169e-05	5.31598e-05	1	1	0
ATM	472	broad.mit.edu	37	11	108235876	108235876	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:108235876G>C	ENST00000278616.4	+	62	9303	c.8918G>C	c.(8917-8919)aGg>aCg	p.R2973T	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.R2973T|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2973					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTACAGCAGAGGCCGGAAGAT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			23	44					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87955361	87955361	+	Splice_Site	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:87955361A>G	ENST00000369577.3	+	7	1062	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	ZNF292_ENST00000339907.4_Splice_Site_p.E335G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATTAATTCAGAGGTAAGAATA	0.284000													4	8					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811383	44811383	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr15:44811383G>A	ENST00000260327.4	+	11	1692	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.E377K|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.E305K|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.E305K	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	377	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GCTTTTCCGTGAACATTGTGT	0.284000													7	35					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387635	77387635	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:77387635C>A	ENST00000282849.5	-	10	2027	c.1609G>T	c.(1609-1611)Gtg>Ttg	p.V537L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	537	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATACCTTCACAAAACCAAGG	0.403000													28	45					7.26314e-15	8.32878e-15	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													4	176					0.00116845	0.00120496	1	1	0
ALK	238	broad.mit.edu	37	2	29917794	29917794	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:29917794G>A	ENST00000389048.3	-	3	1780	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAGGGGATGCGGCGCCAGGAC	0.602000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				25	44					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709745	67709745	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:67709745C>T	ENST00000268797.7	-	3	816	c.471G>A	c.(469-471)ctG>ctA	p.L157L	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	157						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGGGGCTCAGCAGGCTGCCTG	0.597000													13	14					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4679868	4679868	+	Translation_Start_Site	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:4679868T>C	ENST00000379440.4	+	2	289	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PRNP_ENST00000430350.2_Start_Codon_SNP_p.M1T	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	1					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCAGTCATTATGGCGAACCTT	0.483000													19	32					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88731768	88731768	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:88731768A>G	ENST00000226284.5	+	6	324	c.257A>G	c.(256-258)aAt>aGt	p.N86S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	86	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GAGACTTCAAATGAAGGAGAA	0.368000													20	23					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758556	62758556	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:62758556G>A	ENST00000512091.2	+	9	2206	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	LPHN3_ENST00000508946.1_Missense_Mutation_p.A487T|LPHN3_ENST00000504896.1_Missense_Mutation_p.A487T|LPHN3_ENST00000514591.1_Missense_Mutation_p.A487T|LPHN3_ENST00000514996.1_Missense_Mutation_p.A487T|LPHN3_ENST00000506720.1_Missense_Mutation_p.A555T|LPHN3_ENST00000509896.1_Missense_Mutation_p.A555T|LPHN3_ENST00000506746.1_Missense_Mutation_p.A555T|LPHN3_ENST00000507164.1_Missense_Mutation_p.A555T|LPHN3_ENST00000545650.1_Missense_Mutation_p.A487T|LPHN3_ENST00000514157.1_Missense_Mutation_p.A487T|LPHN3_ENST00000508693.1_Missense_Mutation_p.A555T|LPHN3_ENST00000506700.1_Missense_Mutation_p.A487T|LPHN3_ENST00000507625.1_Missense_Mutation_p.A555T|LPHN3_ENST00000511324.1_Missense_Mutation_p.A555T			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTCCATCAGCATCGTCCCA	0.522000													13	17					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76910745	76910745	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:76910745C>T	ENST00000409709.3	+	35	5006	c.4734C>T	c.(4732-4734)gaC>gaT	p.D1578D	MYO7A_ENST00000458637.2_Silent_p.D1540D|MYO7A_ENST00000409619.2_Silent_p.D1529D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1578	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAAGGGGGACGAATACACCT	0.617000													8	22					0	0	1	0	0
PDZD11	51248	broad.mit.edu	37	X	69508314	69508314	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:69508314C>G	ENST00000239666.4	-	3	269	c.137G>C	c.(136-138)cGa>cCa	p.R46P	PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.R46P	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	46						basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						TGTGATGGTTCGGGGCAGAAA	0.483000													8	14					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33395102	33395102	+	Nonsense_Mutation	SNP	C	C	A	rs2381002		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr9:33395102C>A	ENST00000539936.1	-	3	356	c.118G>T	c.(118-120)Gag>Tag	p.E40*	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	40					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTCATGAACTCGGCCAGGAAC	0.587000													4	27					0.00909568	0.00925143	1	1	0
PTCD3	55037	broad.mit.edu	37	2	86354347	86354347	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:86354347C>G	ENST00000254630.7	+	13	1081	c.1015C>G	c.(1015-1017)Ctg>Gtg	p.L339V		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	339						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TAATACCATTCTGAAATGTCT	0.413000													30	41					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95457372	95457372	+	Silent	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:95457372C>A	ENST00000324972.6	+	5	562	c.369C>A	c.(367-369)acC>acA	p.T123T	DYNC1I1_ENST00000447467.2_Silent_p.T106T|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000457059.1_Silent_p.T106T|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	123	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAATTAGGACCCTGCAGTGGG	0.438000													50	125					3.31993e-32	3.91277e-32	1	1	0
IKBKE	9641	broad.mit.edu	37	1	206658541	206658541	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:206658541T>C	ENST00000367120.3	+	15	1887	c.1514T>C	c.(1513-1515)gTc>gCc	p.V505A	IKBKE_ENST00000537984.1_Missense_Mutation_p.V420A	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	505					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTAGCGGAGGTCCTCTCCAGA	0.632000													8	22					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172641906	172641906	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:172641906A>T	ENST00000422440.2	-	18	1952	c.1915T>A	c.(1915-1917)Tac>Aac	p.Y639N	SLC25A12_ENST00000392592.4_Missense_Mutation_p.Y532N	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	639					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GCGAGTCTGTATCCACCGATG	0.493000													28	56					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16731547	16731547	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:16731547C>T	ENST00000335496.1	-	8	1208	c.726G>A	c.(724-726)caG>caA	p.Q242Q	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.Q219Q	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	242							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTTCAGGCTCTGTGCATCCA	0.557000													10	18					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:63010911T>C	ENST00000439174.2	-	4	843	c.598A>G	c.(598-600)Aga>Gga	p.R200G	GNA13_ENST00000541118.1_Missense_Mutation_p.R105G	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTGGGTCTTCTGGCAAGCAGA	0.353000													26	10					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44275017	44275017	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:44275017C>A	ENST00000244571.4	-	6	1011	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y	RP11-444E17.6_ENST00000505802.1_3'UTR|TMEM151B_ENST00000438774.2_3'UTR	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	337					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	AAGATGCCATCAGAGATGCAG	0.632000													6	9					0.0215528	0.021847	1	1	0
GDI1	2664	broad.mit.edu	37	X	153670977	153670977	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:153670977G>A	ENST00000447750.2	+	11	1637	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	434					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGAGAACATGAAGCGCAAAC	0.562000													18	49					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58814447	58814447	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:58814447G>C	ENST00000355431.3	+	15	1628	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	ARID4A_ENST00000395168.3_Missense_Mutation_p.E419Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E419Q|ARID4A_ENST00000348476.3_Missense_Mutation_p.E419Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	419					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAAGTAAAAGAGGAAAAAAA	0.358000													14	35					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623154	20623154	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:20623154G>A	ENST00000525748.1	+	2	756	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	161					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCGTGGTGCTGGCCACGGATG	0.642000													5	5					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935931	57935931	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:57935931G>A	ENST00000358697.4	-	1	1136	c.924C>T	c.(922-924)ggC>ggT	p.G308G		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	308	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGAAGGTCCAGCCGCAGCCAC	0.622000													11	4					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34493276	34493276	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr9:34493276A>G	ENST00000242317.4	+	9	937	c.766A>G	c.(766-768)Aaa>Gaa	p.K256E	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	256					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCCAGTGGCTAAAAAATCAGG	0.473000									Kartagener syndrome				17	29					0	0	1	0	0
CT45A1	541466	broad.mit.edu	37	X	134856789	134856789	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:134856789G>A	ENST00000497301.2	+	5	654	c.564G>A	c.(562-564)atG>atA	p.M188I	CT45A1_ENST00000370741.3_Missense_Mutation_p.M188I|CT45A1_ENST00000482795.1_Missense_Mutation_p.M188I			Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1																		TGAAACGTATGATTTGAGAAT	0.368000													25	1180					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													6	102					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973740	29973740	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:29973740G>A	ENST00000378993.1	+	11	2567	c.1894G>A	c.(1894-1896)Gta>Ata	p.V632I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V632I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	632	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGTACGACGTACCTCCTAC	0.507000													5	11					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505521	159505521	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:159505521A>G	ENST00000334857.2	-	1	321	c.277T>C	c.(277-279)Tcc>Ccc	p.S93P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCTGCCAAGGAGATAGGTTGG	0.443000													22	54					0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065500	2065500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:2065500G>A	ENST00000423729.2	+	3	555	c.555G>A	c.(553-555)tgG>tgA	p.W185*	NAT8L_ENST00000331662.3_Nonsense_Mutation_p.W17*	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	185	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CCTGCTTCTGGGTGGCCGTGC	0.662000													19	36					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59608634	59608634	+	Missense_Mutation	SNP	A	A	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:59608634A>C	ENST00000541311.1	-	5	834	c.600T>G	c.(598-600)agT>agG	p.S200R	GIF_ENST00000257248.2_Missense_Mutation_p.S225R			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	225					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.S225S(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGGCCAGTACTGTAGATGT	0.463000													18	29					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9243950	9243950	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:9243950C>T	ENST00000318602.7	-	19	2623	c.2316G>A	c.(2314-2316)ctG>ctA	p.L772L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	772					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CATCTTCAGACAGGCAGAAGG	0.547000													11	24					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175942	57175942	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:57175942G>A	ENST00000554643.1	+	4	847	c.498G>A	c.(496-498)ctG>ctA	p.L166L	HSD17B6_ENST00000555159.1_Silent_p.L166L|HSD17B6_ENST00000322165.1_Silent_p.L166L|HSD17B6_ENST00000554150.1_Silent_p.L166L|HSD17B6_ENST00000555805.1_Silent_p.L166L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	166					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CCAGCATTCTGGGAAGAGTTG	0.448000													12	44					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513097	61513097	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:61513097C>T	ENST00000266070.4	-	16	4536	c.4211G>A	c.(4210-4212)cGa>cAa	p.R1404Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1404Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1404					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGCCGCCCTCGCTCCACAAG	0.602000													17	50					0	0	1	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49040203	49040203	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:49040203C>T	ENST00000376317.3	-	3	390	c.296G>A	c.(295-297)gGc>gAc	p.G99D	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.G31D|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.G99D|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.G31D|PRICKLE3_ENST00000376310.3_Missense_Mutation_p.G99D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	99	PET.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CGGCTTAAGGCCTGGGGGCAC	0.602000													6	20					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618604	134618604	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:134618604G>A	ENST00000361675.2	+	5	1313	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	362	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gataaaagaggaagagaaaag	0.512000													6	6					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652583	1652583	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:1652583A>G	ENST00000252804.4	-	17	3019	c.2969T>C	c.(2968-2970)cTg>cCg	p.L990P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	990					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGGAACCACAGCGTGTGCAT	0.642000													4	2					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36147249	36147249	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:36147249G>C	ENST00000258840.6	-	22	3544	c.3154C>G	c.(3154-3156)Cct>Gct	p.P1052A	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1005A|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1005A|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1018A	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1005					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATGTAGAAGGGGAAGGAGTC	0.433000													15	29					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72215627	72215627	+	Splice_Site	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:72215627A>G	ENST00000340595.3	+	2	453		c.e2-1		SLC4A4_ENST00000512686.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000514331.1_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCATCTTCCTAGGTGGATCAA	0.448000													19	28					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2317883	2317883	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:2317883G>A	ENST00000222990.3	-	2	194	c.152C>T	c.(151-153)cCc>cTc	p.P51L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	51					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CATTCGACTGGGGGCTGGGAC	0.642000													10	9					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892644	22892644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr22:22892644G>A	ENST00000543184.1	-	4	1319	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	PRAME_ENST00000424204.2_Nonsense_Mutation_p.Q137*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.Q153*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.Q153*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.Q137*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.Q153*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.Q153*	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	153					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTCATGGGCTGAGCTGCTTCT	0.502000													24	35					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627313	14627313	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:14627313G>T	ENST00000218075.4	+	7	1446	c.916G>T	c.(916-918)Gca>Tca	p.A306S	GLRA2_ENST00000355020.4_Missense_Mutation_p.A306S|GLRA2_ENST00000443437.2_Missense_Mutation_p.A217S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	306					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGGCTCCAGGGCATCTCTGCC	0.498000													18	35					5.03518e-11	5.64321e-11	1	1	0
CD1E	913	broad.mit.edu	37	1	158324255	158324255	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:158324255C>A	ENST00000368160.3	+	2	147	c.147C>A	c.(145-147)agC>agA	p.S49R	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S49R|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.S49R|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.S49R|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S47R|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.S49R|CD1E_ENST00000368155.3_Missense_Mutation_p.S49R|CD1E_ENST00000368161.3_Missense_Mutation_p.S49R	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	49					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCAACCACAGCTGGGCACACA	0.582000													11	15					0.000673444	0.000699346	1	1	0
NONO	4841	broad.mit.edu	37	X	70514147	70514147	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:70514147G>T	ENST00000535149.1	+	3	795	c.152G>T	c.(151-153)cGt>cTt	p.R51L	NONO_ENST00000373841.1_Missense_Mutation_p.R140L|NONO_ENST00000373856.3_Missense_Mutation_p.R140L|NONO_ENST00000276079.8_Missense_Mutation_p.R140L|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	140					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAGCAGCTGCGTGTGCGCTTT	0.507000			T	TFE3	papillary renal cancer								17	45					1.5739e-10	1.75732e-10	1	1	0
PKP2	5318	broad.mit.edu	37	12	33030811	33030811	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:33030811C>T	ENST00000340811.4	-	3	1111	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	PKP2_ENST00000070846.6_Missense_Mutation_p.E335K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	335					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGCTTCTCTCAGTGAGCAGA	0.607000													5	21					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100653405	100653405	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:100653405C>A	ENST00000218516.3	-	6	973	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	318			Missing (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TGATTGATGGCAATTACGTCC	0.453000													47	81					5.34276e-22	6.24724e-22	1	1	0
SULT2A1	6822	broad.mit.edu	37	19	48378081	48378081	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:48378081C>T	ENST00000222002.3	-	5	717	c.578G>A	c.(577-579)aGa>aAa	p.R193K		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	193					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CTCTATGGTTCTTCCTGTGTC	0.443000													28	60					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	27					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182008	120182008	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:120182008G>C	ENST00000328078.1	+	1	547	c.470G>C	c.(469-471)aGt>aCt	p.S157T		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	157					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTGATGTGAGTGTAGATGAA	0.552000													31	64					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266377	50266377	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:50266377G>A	ENST00000246801.3	-	1	210	c.128C>T	c.(127-129)gCc>gTc	p.A43V		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	43							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GATCCCCTTGGCCCGGCTGGT	0.617000													21	62					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31748810	31748810	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:31748810C>T	ENST00000375663.3	-	22	3075	c.2635G>A	c.(2635-2637)Gga>Aga	p.G879R	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	879					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGGAGATTCCATAGATGACG	0.622000													16	23					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732228	100732228	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:100732228G>A	ENST00000306085.6	+	3	1932	c.1635G>A	c.(1633-1635)ccG>ccA	p.P545P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	545					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCGTGCCGGTCCCTGAGG	0.667000													21	28					0	0	1	0	0
PSMD7	5713	broad.mit.edu	37	16	74339435	74339435	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:74339435T>A	ENST00000219313.4	+	7	919	c.779T>A	c.(778-780)gTg>gAg	p.V260E	AC009120.6_ENST00000566411.1_RNA|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000540379.1_Missense_Mutation_p.V183E	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATGGTGGTAGTGTACTTGGCC	0.532000													15	29					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131570	30131570	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:30131570C>T	ENST00000376694.4	+	1	578	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TRIM15_ENST00000376688.1_Missense_Mutation_p.R37W	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	37					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CACCTTCTGCCGGCTCTGCCT	0.657000													6	11					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562233	95562233	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:95562233T>A	ENST00000526495.1	-	25	5315	c.5024A>T	c.(5023-5025)tAc>tTc	p.Y1675F	DICER1_ENST00000343455.3_Missense_Mutation_p.Y1675F|DICER1_ENST00000527414.1_Missense_Mutation_p.Y1675F|DICER1_ENST00000393063.1_Missense_Mutation_p.Y1675F|DICER1_ENST00000556045.1_Missense_Mutation_p.Y573F|DICER1_ENST00000541352.1_Missense_Mutation_p.Y1675F			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1675	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTGAATCTGTAGTTGATTTT	0.388000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				21	45					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642864	128642864	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:128642864C>T	ENST00000527786.2	+	4	1062	c.573C>T	c.(571-573)ctC>ctT	p.L191L	FLI1_ENST00000534087.2_Silent_p.L158L|FLI1_ENST00000344954.6_Silent_p.L158L|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000281428.8_Silent_p.L125L	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGTCACACCTCAGTTACCTCA	0.552000			T	EWSR1	Ewing sarcoma								32	44					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328442	160328442	+	Missense_Mutation	SNP	T	T	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:160328442T>G	ENST00000252660.4	+	1	469	c.455T>G	c.(454-456)gTc>gGc	p.V152G		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	152					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.V152A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCGGCATTGGTCTGTGCCCTT	0.547000													44	67					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107219570	107219570	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:107219570A>T	ENST00000392837.4	+	4	959	c.808A>T	c.(808-810)Act>Tct	p.T270S	RIC8B_ENST00000392839.2_Missense_Mutation_p.T270S|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T230S			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	270					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CGTAGGTCCAACTGAAGACAA	0.403000													15	26					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824655	74824655	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:74824655C>T	ENST00000256362.4	+	2	1410	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	390					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGGAGTGCTCCGCACTGGCG	0.627000													15	25					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129278521	129278521	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr3:129278521G>C	ENST00000393239.1	-	32	5417	c.5239C>G	c.(5239-5241)Cag>Gag	p.Q1747E	PLXND1_ENST00000324093.4_Missense_Mutation_p.Q1747E			Q9Y4D7	PLXD1_HUMAN	plexin D1	1747					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTCTCAGCCTGCTCCTCCAGG	0.567000													31	58					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660633	153660633	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:153660633G>T	ENST00000368680.3	+	15	2825	c.2353G>T	c.(2353-2355)Gct>Tct	p.A785S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	785	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCGGTGCTGGGCTGAGGACCC	0.642000													11	31					2.80697e-09	3.11071e-09	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1270723	1270723	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:1270723C>T	ENST00000348261.5	+	35	7039	c.6791C>T	c.(6790-6792)cCc>cTc	p.P2264L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2258L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2258L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2264					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGACCGTCCCCAGCTTTGCC	0.677000													10	18					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022384	18022384	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:18022384G>T	ENST00000205890.5	+	2	608	c.270G>T	c.(268-270)atG>atT	p.M90I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	90	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGACGCAGATGCGCATGGGCA	0.662000													9	3					5.4927e-09	6.06443e-09	1	1	0
GREB1	9687	broad.mit.edu	37	2	11738889	11738889	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:11738889G>A	ENST00000381486.2	+	15	2536	c.2236G>A	c.(2236-2238)Gca>Aca	p.A746T	GREB1_ENST00000234142.5_Missense_Mutation_p.A746T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	746						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGACACGGAGGCACAGACAAA	0.468000													37	76					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47985664	47985664	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr21:47985664C>T	ENST00000318711.7	+	36	4389	c.4206C>T	c.(4204-4206)taC>taT	p.Y1402Y	DIP2A_ENST00000417564.2_Silent_p.Y1401Y|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Silent_p.Y1397Y	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1401					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGGTACTACACCGTTTACG	0.572000													8	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432647	179432647	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:179432647A>T	ENST00000589042.1	-	326	78436	c.78212T>A	c.(78211-78213)gTt>gAt	p.V26071D	TTN_ENST00000359218.5_Missense_Mutation_p.V17131D|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24430D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17198D|TTN_ENST00000460472.2_Missense_Mutation_p.V17006D|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23503D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24430	Ig-like 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTACACCAACAATATTTTC	0.383000													31	85					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099889	168099889	+	Silent	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:168099889T>C	ENST00000409195.1	+	9	2076	c.1987T>C	c.(1987-1989)Ttg>Ctg	p.L663L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L663L|XIRP2_ENST00000409273.1_Silent_p.L441L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	488					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						AACAAGGCCATTGGACTCAAT	0.433000													27	34					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89981380	89981380	+	Silent	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:89981380C>A	ENST00000402938.3	-	3	415	c.282G>T	c.(280-282)gtG>gtT	p.V94V	GABRR2_ENST00000602399.1_Silent_p.V119V|GABRR2_ENST00000602808.1_5'UTR	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	119					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ATACCATGTCCACCTCGGAGA	0.632000													3	8					0.00024832	0.000260604	1	1	0
ZNF16	7564	broad.mit.edu	37	8	146156421	146156421	+	Silent	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:146156421T>A	ENST00000276816.4	-	4	1938	c.1752A>T	c.(1750-1752)cgA>cgT	p.R584R	ZNF16_ENST00000394909.2_Silent_p.R584R	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GATTTGAGCTTCGGTTGAAGG	0.473000													17	39					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94436498	94436498	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:94436498G>A	ENST00000282020.4	+	13	2387	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	GRID2_ENST00000510992.1_Missense_Mutation_p.R615Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	710					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAAATGTGGCGGATGATCAAC	0.473000													12	20					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240981243	240981243	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:240981243A>G	ENST00000408934.1	-	1	1156	c.1157T>C	c.(1156-1158)aTa>aCa	p.I386T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	386										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTAAGAGATTATTAGAAAGTA	0.443000													28	25					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364299	22364299	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:22364299A>G	ENST00000397121.2	-	3	537	c.220T>C	c.(220-222)Tgt>Cgt	p.C74R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCATGTCCACATTTGTCATAT	0.323000													51	39					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8449913	8449913	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:8449913G>A	ENST00000360416.3	-	12	1365	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	MYH10_ENST00000379980.4_Silent_p.P415P|MYH10_ENST00000396239.1_Silent_p.P399P|MYH10_ENST00000269243.4_Silent_p.P399P	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	399	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCTTGATCCGGGGAGTCAGGA	0.443000													34	18					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97342439	97342439	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:97342439G>A	ENST00000216639.3	+	12	1290	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	381						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		CACACAGACAGAGGAGGCCAT	0.393000													30	89					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79655867	79655867	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:79655867A>G	ENST00000275034.4	-	38	4648	c.4481T>C	c.(4480-4482)aTa>aCa	p.I1494T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1494					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTACCGTTTATCTGAGCAGC	0.433000													32	54					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185639813	185639813	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr3:185639813C>T	ENST00000453386.2	-	5	899	c.624G>A	c.(622-624)atG>atA	p.M208I	TRA2B_ENST00000382191.4_Missense_Mutation_p.M108I	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	208	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TAGGTCTCCCCATGTAAATTC	0.373000													21	32					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	36007619	36007619	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:36007619G>T	ENST00000297866.5	+	16	2963	c.2897G>T	c.(2896-2898)gGg>gTg	p.G966V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	966										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAATTTGTTGGGTATACACTG	0.333000													8	16					0.00307968	0.00315402	1	1	0
TUBD1	51174	broad.mit.edu	37	17	57952056	57952056	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:57952056T>A	ENST00000325752.3	-	6	1055	c.778A>T	c.(778-780)Atg>Ttg	p.M260L	TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.M260L|TUBD1_ENST00000592426.1_Missense_Mutation_p.M260L|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.M44L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	260					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AAATGCTCCATTAAGTCTCCT	0.353000													71	23					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702714	23702714	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:23702714C>T	ENST00000256797.4	-	20	2721	c.2553G>A	c.(2551-2553)gaG>gaA	p.E851E	ERN2_ENST00000457008.2_Silent_p.E751E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	803	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGGGCTCCTGCTCGGACTCCT	0.657000													6	11					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133827306	133827306	+	Silent	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:133827306T>C	ENST00000367895.5	+	14	1718	c.1254T>C	c.(1252-1254)gaT>gaC	p.D418D	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Silent_p.D424D|EYA4_ENST00000430974.2_Silent_p.D370D|EYA4_ENST00000525849.1_Silent_p.D395D|EYA4_ENST00000452339.2_Silent_p.D364D|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000355167.3_Silent_p.D418D|EYA4_ENST00000431403.2_Silent_p.D418D|EYA4_ENST00000355286.6_Silent_p.D395D	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	418					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATCTTGCTGATACTCATTTGT	0.353000													25	50					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143745901	143745901	+	RNA	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:143745901C>T	ENST00000507178.2	-	0	1909									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				TCACCTGCTGCTGGCTCCGGA	0.687000													4	6					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389266	117389266	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:117389266G>A	ENST00000321322.6	-	7	1606	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	DSCAML1_ENST00000527706.1_Silent_p.P265P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	475	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCGGATCTGGGGGCCTGTGA	0.612000													22	56					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139316861	139316861	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:139316861C>T	ENST00000280098.4	+	7	1047	c.668C>T	c.(667-669)cCa>cTa	p.P223L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	223	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCTCGATCTCCAGTTTTTAAC	0.308000													11	16					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107820864	107820864	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:107820864T>C	ENST00000379028.3	-	25	3124	c.2654A>G	c.(2653-2655)tAt>tGt	p.Y885C	NRCAM_ENST00000379022.4_Missense_Mutation_p.Y885C|NRCAM_ENST00000413765.2_Missense_Mutation_p.Y866C|NRCAM_ENST00000379024.4_Missense_Mutation_p.Y866C|NRCAM_ENST00000351718.4_Missense_Mutation_p.Y869C|NRCAM_ENST00000425651.2_Missense_Mutation_p.Y885C			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	885	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGTCTTCCAATAGTAAATCTG	0.408000													19	19					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757435	8757435	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr12:8757435G>T	ENST00000229335.6	-	4	614	c.511C>A	c.(511-513)Cgt>Agt	p.R171S	AICDA_ENST00000537228.1_Missense_Mutation_p.R161S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	171					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTGGAGAGACGAACTGAATTT	0.368000													37	79					1.48646e-12	1.68504e-12	1	1	0
MID2	11043	broad.mit.edu	37	X	107084615	107084615	+	Splice_Site	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:107084615G>T	ENST00000262843.6	+	2	1268	c.720G>T	c.(718-720)aaG>aaT	p.K240N	MID2_ENST00000443968.2_Splice_Site_p.K240N	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	240						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGAAACTCAAGGTAAGGGATC	0.438000													12	28					0.000219431	0.000231103	1	1	0
NID1	4811	broad.mit.edu	37	1	236205406	236205406	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:236205406G>A	ENST00000264187.6	-	4	1021	c.939C>T	c.(937-939)ttC>ttT	p.F313F	NID1_ENST00000366595.3_Silent_p.F313F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	313					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCTTGTAGGAGAAGGGCGTGG	0.602000													18	34					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53575138	53575138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:53575138G>A	ENST00000342160.3	-	67	10589	c.10132C>T	c.(10132-10134)Cag>Tag	p.Q3378*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.Q3378*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3378					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGAGGACTGTGAGGAGCAT	0.507000													13	15					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31904579	31904579	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:31904579G>A	ENST00000396184.3	-	8	931	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	PDE1C_ENST00000396193.1_Missense_Mutation_p.L303F|PDE1C_ENST00000321453.7_Missense_Mutation_p.L243F|PDE1C_ENST00000396182.2_Missense_Mutation_p.L243F|PDE1C_ENST00000396191.1_Missense_Mutation_p.L243F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	243	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATAGAGGAGGTAATGCACT	0.443000													34	41					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692343	116692343	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:116692343G>A	ENST00000357780.3	-	3	545	c.431C>T	c.(430-432)aCc>aTc	p.T144I		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTGACCTGGGTGCGCAGCTG	0.692000													8	27					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58675798	58675798	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:58675798C>T	ENST00000254286.4	+	4	395	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	105						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GAGAGACACTCACTCGTGTTC	0.343000													34	78					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814069	137814069	+	Silent	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:137814069G>T	ENST00000409968.1	+	3	397	c.219G>T	c.(217-219)ggG>ggT	p.G73G	THSD7B_ENST00000413152.2_Silent_p.G42G|THSD7B_ENST00000272643.3_Silent_p.G73G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTTGACGGGTGGACAAGTC	0.532000													11	22					1.58986e-06	1.69852e-06	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	G	A	rs141559059		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:143141184G>A	ENST00000332690.1	+	1	639	c.639G>A	c.(637-639)atG>atA	p.M213I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000													42	87					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600761	3600761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:3600761C>T	ENST00000302006.3	+	3	1403	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	451						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCGGCACAGCAGTTAAAGTC	0.627000													12	24					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302212	86302212	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:86302212C>T	ENST00000263857.6	-	12	1930	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	POLR1A_ENST00000409681.1_Missense_Mutation_p.V518M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	518					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.V518M(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCTTGGCCACGGCCTCTCGC	0.622000													3	16					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135782758	135782758	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr9:135782758C>T	ENST00000298552.3	-	13	1485		c.e13-1		TSC1_ENST00000545250.1_Splice_Site|TSC1_ENST00000440111.2_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(2)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTCTCTCTTCCTGAAAAGATA	0.398000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				6	10					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411154	130411154	+	Silent	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:130411154G>T	ENST00000370904.1	-	20	3250	c.2340C>A	c.(2338-2340)gtC>gtA	p.V780V	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Silent_p.V789V|IGSF1_ENST00000370910.1_Silent_p.V780V|IGSF1_ENST00000370903.3_Silent_p.V794V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	789	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACCAGGGGTGACCACAGGGC	0.433000													24	61					4.87955e-14	5.57395e-14	1	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29896918	29896918	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:29896918A>G	ENST00000308713.5	-	8	1888	c.1361T>C	c.(1360-1362)cTt>cCt	p.L454P	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L384P|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L410P|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L340P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	454	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCAAATCGAAGGCTTAACAG	0.577000													11	24					0	0	1	0	0
NUDT9	53343	broad.mit.edu	37	4	88344116	88344116	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:88344116C>G	ENST00000302174.4	+	1	383	c.59C>G	c.(58-60)gCc>gGc	p.A20G	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	20						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CTGGCCTTGGCCTCTGTGACT	0.632000													14	34					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939843	22939843	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:22939843A>G	ENST00000397104.3	-	6	2487	c.2488T>C	c.(2488-2490)Tac>Cac	p.Y830H						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCACATTTGTACGATTTCTCC	0.373000													34	108					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405359	1405359	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr10:1405359C>T	ENST00000381312.1	-	3	1266	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	314	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GAACGTCCTGCCGTCCACGCT	0.721000													5	9					0	0	1	0	0
TMEM255A	55026	broad.mit.edu	37	X	119438237	119438237	+	Missense_Mutation	SNP	A	A	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:119438237A>C	ENST00000371369.4	-	2	394	c.168T>G	c.(166-168)aaT>aaG	p.N56K	TMEM255A_ENST00000440464.1_Missense_Mutation_p.N56K|TMEM255A_ENST00000309720.5_Missense_Mutation_p.N56K	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CTACAGTCACATTCTGGGTCC	0.478000													52	77					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58416515	58416515	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:58416515C>T	ENST00000371015.1	+	11	1979	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	PHACTR3_ENST00000361300.4_Silent_p.Y393Y|PHACTR3_ENST00000395639.4_Silent_p.Y393Y|PHACTR3_ENST00000395636.2_Silent_p.Y463Y|PHACTR3_ENST00000355648.4_Silent_p.Y463Y|PHACTR3_ENST00000359926.3_Silent_p.Y501Y|PHACTR3_ENST00000541461.1_Silent_p.Y463Y	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	504	Required for PP1CA binding and inhibition of PP1 activity.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TCAGTGATTACGTGGAAGTAG	0.428000													20	16					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103797816	103797816	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:103797816T>C	ENST00000302251.5	-	6	1244	c.793A>G	c.(793-795)Agt>Ggt	p.S265G	PDGFD_ENST00000393158.2_Missense_Mutation_p.S271G	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	271					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GGAGTGCAACTGTAACGCTTG	0.473000													12	22					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112438999	112438999	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:112438999C>T	ENST00000230538.7	-	35	5321	c.4924G>A	c.(4924-4926)Gaa>Aaa	p.E1642K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E1635K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1635K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1635K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1642					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATGGGGCCTTCAAAGCAAGGG	0.438000													27	58					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124712378	124712378	+	Missense_Mutation	SNP	C	C	A	rs146105461		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr10:124712378C>A	ENST00000481909.1	-	2	559	c.335G>T	c.(334-336)aGg>aTg	p.R112M	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	112										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		ATTCTTGCCCCTACTGGTTCC	0.423000													20	47					1.55469e-16	1.80369e-16	1	1	0
RAG1	5896	broad.mit.edu	37	11	36597157	36597157	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:36597157A>G	ENST00000299440.5	+	2	2415	c.2303A>G	c.(2302-2304)tAc>tGc	p.Y768C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	768					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCCAACCCTTACCATGAGTCT	0.502000									Familial Hemophagocytic Lymphohistiocytosis				28	16					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301486	191301486	+	Nonsense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:191301486C>G	ENST00000392328.1	+	3	1055	c.731C>G	c.(730-732)tCa>tGa	p.S244*	MFSD6_ENST00000281416.7_Nonsense_Mutation_p.S244*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	244					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACTTTGAACTCAAGCACAGCA	0.473000													16	53					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202194618	202194618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:202194618G>T	ENST00000367278.3	+	2	369	c.280G>T	c.(280-282)Gag>Tag	p.E94*	LGR6_ENST00000439764.2_Nonsense_Mutation_p.E51*|LGR6_ENST00000255432.7_Nonsense_Mutation_p.E42*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	94						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTTCTTGGAGGAGCTGTGAGT	0.552000													24	54					3.08376e-08	3.39214e-08	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51219965	51219965	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:51219965C>T	ENST00000293441.1	-	1	230	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SHANK1_ENST00000391814.1_Missense_Mutation_p.S71N|SHANK1_ENST00000359082.3_Missense_Mutation_p.S71N	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	71					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GACCATCATGCTGAAGTGGGC	0.662000													12	38					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100692214	100692214	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:100692214C>T	ENST00000306151.4	+	5	12688	c.12624C>T	c.(12622-12624)tcC>tcT	p.S4208S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4208	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTCTTCCCAGGAATTCC	0.527000													17	29					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885813	24885813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:24885813G>T	ENST00000382554.3	+	9	5176	c.4858G>T	c.(4858-4860)Gag>Tag	p.E1620*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1620	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGCAGATCGAGGTGGTGGG	0.582000													7	15					0.27861	0.27861	1	1	0
ZNF385C	201181	broad.mit.edu	37	17	40179065	40179065	+	Silent	SNP	G	G	T	rs71373480		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:40179065G>T	ENST00000436535.3	-	8	1350	c.1350C>A	c.(1348-1350)atC>atA	p.I450I	ZNF385C_ENST00000461831.1_5'UTR					zinc finger protein 385C											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				GCAGAGCACAGATGGCAGTGG	0.652000													24	12					3.6726e-16	4.24421e-16	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153070102	153070102	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:153070102G>A	ENST00000164640.4	-	8	1207	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	PDZD4_ENST00000544474.1_Missense_Mutation_p.A230V|PDZD4_ENST00000393758.2_Missense_Mutation_p.A264V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	339						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCAGCCCCGCCCCCTCGGC	0.657000													4	27					0	0	1	0	0
CXCL11	6373	broad.mit.edu	37	4	76956236	76956236	+	Silent	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:76956236T>A	ENST00000306621.3	-	3	434	c.225A>T	c.(223-225)ctA>ctT	p.L75L	ART3_ENST00000341029.5_Intron|CXCL11_ENST00000503860.1_Silent_p.L75L	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	75					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTGGGATTTAGGCATCGTT	0.318000													12	41					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16900019	16900019	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:16900019G>A	ENST00000502640.1	-	1	238	c.90C>T	c.(88-90)taC>taT	p.Y30Y	LDB2_ENST00000304523.5_Silent_p.Y30Y|LDB2_ENST00000441778.2_Silent_p.Y30Y|LDB2_ENST00000515064.1_Silent_p.Y30Y			O43679	LDB2_HUMAN	LIM domain binding 2	30							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATAGATTCGGTACTCTGGCT	0.453000													22	39					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757153	56757153	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr14:56757153G>A	ENST00000267460.4	+	5	961	c.675G>A	c.(673-675)tcG>tcA	p.S225S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	225					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AAACCAGGTCGGCCCAGCAAC	0.557000													10	32					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60235819	60235819	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr11:60235819A>G	ENST00000534668.1	+	7	1061	c.772A>G	c.(772-774)Aat>Gat	p.N258D	MS4A1_ENST00000532073.1_Missense_Mutation_p.N245D|MS4A1_ENST00000389939.2_Missense_Mutation_p.N258D|MS4A1_ENST00000528313.1_Missense_Mutation_p.N91D|MS4A1_ENST00000345732.4_Missense_Mutation_p.N258D	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	258					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CCAACCAAAGAATGAAGAAGA	0.378000													7	22					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117722120	117722120	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:117722120G>A	ENST00000276204.6	+	17	1890	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	DOCK11_ENST00000276202.7_Missense_Mutation_p.V606M			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	606					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCTTCATATGTGCCCTTGAA	0.299000													22	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993547	8993547	+	Splice_Site	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:8993547T>C	ENST00000397910.4	-	66	41747		c.e66-2		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTCTGGCCTAGGGAGGGCA	0.577000													11	11					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820731	35820731	+	Silent	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:35820731T>C	ENST00000399989.1	+	2	697	c.418T>C	c.(418-420)Ttg>Ctg	p.L140L	MAGEB16_ENST00000399987.1_Silent_p.L140L|MAGEB16_ENST00000399992.1_Silent_p.L172L|MAGEB16_ENST00000399988.1_Silent_p.L140L|MAGEB16_ENST00000399985.1_Silent_p.L140L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	140	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAGATATGTTGAAGATTAT	0.443000													26	16					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134184	91134184	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:91134184C>T	ENST00000373094.1	+	2	3790	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	PCDH11X_ENST00000361655.2_Missense_Mutation_p.S982F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S982F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S982F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S982F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S982F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S982F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S982F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S982F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	982					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCAAGTGTTCCTCAAGCAGT	0.502000													49	87					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25855381	25855381	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:25855381A>G	ENST00000397060.4	-	6	812	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	SLC17A3_ENST00000361703.6_Missense_Mutation_p.Y157H|SLC17A3_ENST00000360657.3_Missense_Mutation_p.Y157H	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	157					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCAAAGATATAGAAGACAAAG	0.408000													12	14					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20795242	20795242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr7:20795242C>T	ENST00000404938.2	+	28	4421	c.3769C>T	c.(3769-3771)Cag>Tag	p.Q1257*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.Q812*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	812					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACAGTCAGTGCAGTGATGCTG	0.368000													6	18					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732669	128732669	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:128732669A>G	ENST00000296464.4	+	12	1867	c.1456A>G	c.(1456-1458)Atc>Gtc	p.I486V	HSPA4L_ENST00000505726.1_Missense_Mutation_p.I460V|HSPA4L_ENST00000508776.1_Missense_Mutation_p.I486V|HSPA4L_ENST00000439123.2_Missense_Mutation_p.I517V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCGTGTTAACATCCATGGAAT	0.393000													17	34					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135754203	135754203	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:135754203T>C	ENST00000250617.6	-	20	3316	c.2111A>G	c.(2110-2112)aAc>aGc	p.N704S	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.N550S|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.N550S|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.N577S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	704					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGTCTGGCCGTTGCTTCTGGT	0.493000													41	89					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348367	140348367	+	Silent	SNP	C	C	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:140348367C>T	ENST00000289269.5	+	1	2548	c.2016C>T	c.(2014-2016)gcC>gcT	p.A672A	PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		672	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTATCAGCCTCTGTGGCCA	0.498000													8	29					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558077	140558077	+	Silent	SNP	T	T	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:140558077T>A	ENST00000239444.2	+	1	707	c.462T>A	c.(460-462)ccT>ccA	p.P154P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		154	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCGTTTCCTCTGAAGAATG	0.438000													26	132					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36256020	36256020	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:36256020C>G	ENST00000544099.1	+	7	775	c.712C>G	c.(712-714)Ccc>Gcc	p.P238A	C19orf55_ENST00000396908.4_Missense_Mutation_p.P238A			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	238	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCCTCTCTCCCTTCTCGGA	0.627000													38	71					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122748016	122748016	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:122748016G>A	ENST00000245838.8	-	34	4367	c.4336C>T	c.(4336-4338)Cca>Tca	p.P1446S	THOC2_ENST00000355725.4_Missense_Mutation_p.P1446S|THOC2_ENST00000491737.1_Missense_Mutation_p.P1331S|THOC2_ENST00000497887.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1446	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGGACAGTGGTGGAGGAGTA	0.348000													33	62					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35835680	35835680	+	Missense_Mutation	SNP	A	A	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr20:35835680A>C	ENST00000237530.6	+	7	1006	c.695A>C	c.(694-696)cAg>cCg	p.Q232P	RPN2_ENST00000373622.5_Missense_Mutation_p.Q200P	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	232					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTTCAGGATCAGGTCATCCAG	0.522000													11	62					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417282	89417282	+	RNA	SNP	G	G	T			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:89417282G>T	ENST00000490686.1	-	0	53																											GGAGCCCCAGGAGCTGAGCGG	0.537000													53	181					2.22609e-26	2.61323e-26	1	1	0
F8	2157	broad.mit.edu	37	X	154158231	154158231	+	Silent	SNP	A	A	G			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:154158231A>G	ENST00000360256.4	-	14	4034	c.3834T>C	c.(3832-3834)aaT>aaC	p.N1278N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1278	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTTGTTCTATTTGTTGAAT	0.368000													25	51					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7268218	7268218	+	Silent	SNP	G	G	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:7268218G>A	ENST00000217961.4	+	10	1888	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	556					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TTCTTTGGAAGCCCTGGCTTC	0.532000									Ichthyosis				19	19					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86877261	86877261	+	Silent	SNP	T	T	A	rs150023774		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chrX:86877261T>A	ENST00000373119.4	+	5	1120	c.975T>A	c.(973-975)gcT>gcA	p.A325A	KLHL4_ENST00000373114.4_Silent_p.A325A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	325						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCTTCCAGCTAATGAAATTT	0.373000													24	36					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24498512	24498512	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr5:24498512C>A	ENST00000264463.4	-	9	2017	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	504	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTACCTGCCCTGGTCTGGCA	0.388000										HNSCC(23;0.051)			18	30					3.32936e-07	3.62205e-07	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16458725	16458725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:16458725delA	ENST00000358432.5	-	13	2313	c.2159delT	c.(2158-2160)ctgfs	p.L720fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	720	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GATGCCCCGCAGCATGCCCAC	0.647													67	33	---	---	---	---					
OR10J3	441911	broad.mit.edu	37	1	159283524	159283524	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:159283524delT	ENST00000332217.5	-	1	925	c.926delA	c.(925-927)aacfs	p.N309fs		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGAGACAGAGTTTTTTGCCCC	0.423													29	48	---	---	---	---					
CFHR3	10878	broad.mit.edu	37	1	196759226	196759228	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:196759226_196759228delCCT	ENST00000367425.4	+	5	757_759	c.665_667delCCT	c.(664-669)acctcc>acc	p.S223del	CFHR3_ENST00000391985.3_In_Frame_Del_p.S162del	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GGTGATACCACCTCCTTTCTACT	0.389													38	76	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201980398	201980399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:201980398_201980399insC	ENST00000359651.3	+	1	3326_3327	c.134_135insC	c.(133-138)agcaacfs	p.N46fs	ELF3_ENST00000367283.3_Frame_Shift_Ins_p.N46fs|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.N46fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	46	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTGACCCTGAGCAACCCCCAGA	0.589													17	42	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201982311	201982312	+	Splice_Site	INS	-	-	AA			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:201982311_201982312insAA	ENST00000359651.3	+	6	3882_3883	c.690_691insAA	c.(691-693)ggt>AAggt	p.G231fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Splice_Site_p.G231fs|ELF3_ENST00000367284.5_Splice_Site_p.G231fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	231					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCCCACAGATGGTTTTCGTGA	0.609													11	28	---	---	---	---					
OBSCN	84033	broad.mit.edu	37	1	228495218	228495218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr1:228495218delC	ENST00000570156.2	+	57	15397	c.15323delC	c.(15322-15324)tccfs	p.S5108fs	OBSCN_ENST00000366709.4_Frame_Shift_Del_p.S1270fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.S4151fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.S4151fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.S1785fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4151					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCGCTGCCTCCCTCAGGGTC	0.657													2	4	---	---	---	---					
DPP4	1803	broad.mit.edu	37	2	162891779	162891780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr2:162891779_162891780insA	ENST00000360534.3	-	9	1228_1229	c.668_669insT	c.(667-669)ttafs	p.L223fs		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	223					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GGGCATATGCTAAAAAAGTGCC	0.421													29	21	---	---	---	---					
CNOT10	25904	broad.mit.edu	37	3	32769359	32769362	+	Splice_Site	DEL	GGGG	GGGG	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr3:32769359_32769362delGGGG	ENST00000328834.5	+	10	1528_1531	c.1212_1215delGGGG	c.(1210-1215)aagggg>aa	p.KG404fs	CNOT10_ENST00000538368.1_Splice_Site_p.KG176fs|CNOT10_ENST00000454516.2_Splice_Site_p.KG464fs|CNOT10_ENST00000331889.6_Splice_Site_p.KG404fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	404					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CTGCCAATAAGGGGGTGAGTGCTA	0.431													28	9	---	---	---	---					
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													4	6	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651911	36651911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr6:36651911delC	ENST00000405375.1	+	2	268	c.33delC	c.(31-33)aacfs	p.N11fs	CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.N11fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.N11fs|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.N45fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	11					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TCCGTCAGAACCCATGCGGCA	0.637													10	11	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110477363	110477363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr8:110477363delG	ENST00000378402.5	+	49	8406	c.8302delG	c.(8302-8304)gggfs	p.G2769fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2769					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGACAGATGTGGGGGTTGGAG	0.463										HNSCC(38;0.096)			20	46	---	---	---	---					
AUH	549	broad.mit.edu	37	9	94123949	94123949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr9:94123949delC	ENST00000375731.4	-	1	246	c.223delG	c.(223-225)gacfs	p.D75fs	AUH_ENST00000303617.5_Frame_Shift_Del_p.D75fs|AUH_ENST00000422391.2_Frame_Shift_Del_p.D75fs|AUH_ENST00000478465.1_5'UTR	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	75					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CGCAGCTCGTCCTCCGTCTTC	0.741													2	4	---	---	---	---					
ABCC6P1	653190	broad.mit.edu	37	16	18593648	18593649	+	RNA	INS	-	-	A			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:18593648_18593649insA	ENST00000546162.2	+	0	805					NR_003569.1																						accctgtctcgaaaaaaaaaaa	0.505													3	5	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433													3	3	---	---	---	---					
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704													3	6	---	---	---	---					
DMKN	93099	broad.mit.edu	37	19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	rs112672248	byFrequency	TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000429837.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.					extracellular region		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641													6	6	---	---	---	---					
TPRX2P	503627	broad.mit.edu	37	19	48364626	48364626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5N-A9KM-01A-11D-A42E-08	TCGA-5N-A9KM-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca3b3a7-f2a2-48a3-bde3-88fe99340f0c	8a8f43e2-f9ff-4006-b985-981c32561afd	g.chr19:48364626delT	ENST00000535362.1	+	3	838	c.838delT	c.(838-840)ttafs	p.L280fs																								AGACACCCAGTTATACCCTGA	0.602													2	4	---	---	---	---