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
SEC31A	22872	broad.mit.edu	37	4	83763471	83763471	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:83763471G>C	ENST00000432794.1	-	22	2953	c.2790C>G	c.(2788-2790)caC>caG	p.H930Q	SEC31A_ENST00000505472.1_Missense_Mutation_p.H961Q|SEC31A_ENST00000500777.2_Intron|SEC31A_ENST00000443462.2_Missense_Mutation_p.H925Q|SEC31A_ENST00000395310.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000355196.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H891Q|SEC31A_ENST00000326950.5_Missense_Mutation_p.H891Q|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000264405.5_Missense_Mutation_p.H694Q|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000508502.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000505984.1_Missense_Mutation_p.H891Q|SEC31A_ENST00000448323.1_Missense_Mutation_p.H930Q			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	930	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAGAGGCCTGGTGCTGTGCTG	0.552000													10	16					0	0	0.335167	0	0
FLG	2312	broad.mit.edu	37	1	152278733	152278733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152278733G>T	ENST00000368799.1	-	3	8664	c.8629C>A	c.(8629-8631)Caa>Aaa	p.Q2877K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2877	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTGATTGTCCCTGGACT	0.577000									Ichthyosis				63	263					1.07576e-66	1.21685e-66	0.870114	1	0
COG5	0	broad.mit.edu	37	7	107167729	107167729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr7:107167729C>T	ENST00000393603.2	-	6	855	c.584G>A	c.(583-585)gGg>gAg	p.G195E	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.G195E|COG5_ENST00000297135.3_Missense_Mutation_p.G195E	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	195					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTACTTCCCCCTTGCAGTTG	0.338000													16	15					0	0	0.539581	0	0
KDR	3791	broad.mit.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			27	49					0	0	0.693898	0	0
CXorf40B	541578	broad.mit.edu	37	X	149100914	149100914	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:149100914T>A	ENST00000370406.3	-	5	1153	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	CXorf40B_ENST00000355203.2_Missense_Mutation_p.N109Y|CXorf40B_ENST00000370404.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000462691.1_Missense_Mutation_p.N109Y			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	109										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTGATTTTCTAGTTCC	0.473000													39	65					0	0	0.812448	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	50					0	0	0.184627	0	0
ACSL4	2182	broad.mit.edu	37	X	108921235	108921235	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:108921235C>T	ENST00000340800.2	-	9	1539	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ACSL4_ENST00000348502.6_Silent_p.P304P|ACSL4_ENST00000469796.2_Silent_p.P345P	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.P345P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGAGTGTAAGCGGAGAAGAAT	0.428000													55	83					0	0	0.870114	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889301	23889301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:23889301C>T	ENST00000532292.1	-	1	1874	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACCTCAGGACAAGCATCTTG	0.522000													19	34					0	0	0.557998	0	0
ZNF536	9745	broad.mit.edu	37	19	30935048	30935048	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692000													4	6					0	0	0.150653	0	0
MYO5A	4644	broad.mit.edu	37	15	52622645	52622645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:52622645C>T	ENST00000399231.3	-	34	4628	c.4385G>A	c.(4384-4386)cGa>cAa	p.R1462Q	MYO5A_ENST00000358212.6_Missense_Mutation_p.R1487Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1459Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1460Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1435Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTGACTGGTCGGATGGGTTC	0.418000													56	96					0	0	0.870114	0	0
DSG2	1829	broad.mit.edu	37	18	29099849	29099849	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr18:29099849C>T	ENST00000261590.8	+	3	374	c.165C>T	c.(163-165)ccC>ccT	p.P55P	DSG2_ENST00000585206.1_Silent_p.P55P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	55	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCACCGCCCCCGTGGCTCTTC	0.443000													31	40					0	0	0.750413	0	0
ZNF429	353088	broad.mit.edu	37	19	21720518	21720518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:21720518C>A	ENST00000358491.4	+	4	1871	c.1663C>A	c.(1663-1665)Cat>Aat	p.H555N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTTACTCAACATAAGAAAAT	0.353000													14	42					1.3612e-06	1.46755e-06	0.479597	1	0
GMPR2	51292	broad.mit.edu	37	14	24707610	24707610	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:24707610A>T	ENST00000557854.1	+	8	1187	c.910A>T	c.(910-912)Agg>Tgg	p.R304W	GMPR2_ENST00000559836.1_Splice_Site_p.R286_splice|GMPR2_ENST00000559104.1_Splice_Site_p.R271_splice|GMPR2_ENST00000399440.2_Splice_Site_p.R286_splice|GMPR2_ENST00000559910.1_Splice_Site_p.R253_splice|GMPR2_ENST00000420554.2_Splice_Site_p.R304_splice|GMPR2_ENST00000348719.7_Missense_Mutation_p.R286W|GMPR2_ENST00000456667.3_Splice_Site_p.R258_splice|GMPR2_ENST00000355299.4_Splice_Site_p.R286_splice			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	286					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GGCTGAGTACAGGTATGTGTG	0.512000													3	40					0	0	0.150653	0	0
IST1	9798	broad.mit.edu	37	16	71958718	71958718	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr16:71958718T>C	ENST00000378799.6	+	9	1255	c.899T>C	c.(898-900)gTt>gCt	p.V300A	IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.V313A|IST1_ENST00000544564.1_Missense_Mutation_p.V300A|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.V300A|IST1_ENST00000606369.1_Missense_Mutation_p.V152A|IST1_ENST00000538850.1_Missense_Mutation_p.V152A|IST1_ENST00000329908.8_Silent_p.L299L|IST1_ENST00000378798.5_Missense_Mutation_p.V269A	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	298	Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										GCACAGATTGTTGGTGAGTAG	0.418000													20	9					0	0	0.608945	0	0
CLASRP	11129	broad.mit.edu	37	19	45572375	45572375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:45572375A>G	ENST00000544944.2	+	15	2455	c.1763A>G	c.(1762-1764)gAg>gGg	p.E588G	CLASRP_ENST00000391953.4_Missense_Mutation_p.E545G|CLASRP_ENST00000221455.3_Missense_Mutation_p.E607G			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	607	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CAGGAGCATGAGCGGCAGGTG	0.602000													3	99					0	0	0.115264	0	0
UCKL1	54963	broad.mit.edu	37	20	62577859	62577859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr20:62577859C>T	ENST00000369908.5	-	2	505	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000354216.6_Missense_Mutation_p.R84Q|UCKL1_ENST00000369892.3_Missense_Mutation_p.R84Q	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	84					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGGCGGCCGCCCGGCGGT	0.677000													17	14					0	0	0.520397	0	0
CCDC159	126075	broad.mit.edu	37	19	11462650	11462650	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:11462650G>A	ENST00000588790.1	+	8	937		c.e8+1		CCDC159_ENST00000458408.1_Splice_Site			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAAGCTCCGTGAGTTCCTG	0.612000													8	11					0	0	0.307466	0	0
POTEF	728378	broad.mit.edu	37	2	130832726	130832726	+	Silent	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:130832726G>A	ENST00000357462.5	-	15	2412	c.2319C>T	c.(2317-2319)caC>caT	p.H773H	POTEF_ENST00000409914.2_Silent_p.H773H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	773	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGATGATGCCGTGTTCCATGG	0.582000													37	89					0	0	0.834066	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096729	73096729	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:73096729C>G	ENST00000450736.2	+	4	1386	c.971C>G	c.(970-972)gCa>gGa	p.A324G	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A364G|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A324G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A324G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	324					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGTGTGCGGCATCAGGTGAC	0.617000													284	496					0	0	0.870114	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													3	32					0	0	0.150653	0	0
NF1	4763	broad.mit.edu	37	17	29497016	29497016	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29497016G>A	ENST00000358273.4	+	5	969		c.e5+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCTGAAGGGTAAGTTTAAA	0.289000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	34					0	0	0.435327	0	0
GPR75	10936	broad.mit.edu	37	2	54081969	54081969	+	Translation_Start_Site	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:54081969A>C	ENST00000394705.2	-	0	195				ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75							integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGATGAGCAATATGTGACA	0.438000													11	20					0	0	0.435327	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902315	54902315	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr12:54902315G>A	ENST00000293373.6	+	5	585	c.506_splice	c.e5+1	p.G169_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.G119_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	169					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGGCATGGGTGAGTTAAG	0.423000													67	134					0	0	0.870114	0	0
OBSCN	84033	broad.mit.edu	37	1	228486408	228486408	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:228486408C>T	ENST00000570156.2	+	49	13274	c.13200C>T	c.(13198-13200)ctC>ctT	p.L4400L	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.L1090L|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3443	Ig-like 45.|Poly-Leu.				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)				CGGCCACGCTCACTGTCAGGG	0.547000													24	28					0	0	0.639603	0	0
SPTBN4	57731	broad.mit.edu	37	19	40998962	40998962	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:40998962G>A	ENST00000352632.3	+	5	673		c.e5+1		SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGCTGGGTAAGCACCCC	0.522000													5	18					0	0	0.217242	0	0
GRM6	2916	broad.mit.edu	37	5	178418951	178418951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418951C>T	ENST00000231188.5	-	2	816	c.638G>A	c.(637-639)tGg>tAg	p.W213*	GRM6_ENST00000517717.1_Nonsense_Mutation_p.W213*	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACATAGTTCCATCCCAGTGC	0.627000													9	20					0	0	0.335167	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846810	47846810	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:47846810A>C	ENST00000339488.4	-	3	1803	c.1770T>G	c.(1768-1770)aaT>aaG	p.N590K		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	590						integral to membrane	hedgehog receptor activity										AGATGATATCATTTCGAAAAT	0.423000													43	12					0	0	0.834066	0	0
SLC25A38	54977	broad.mit.edu	37	3	39431997	39431997	+	Splice_Site	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr3:39431997C>T	ENST00000273158.4	+	3	652	c.276_splice	c.e3+1	p.P92_splice		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	92					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGATGTCCCCTGTAAGCTGC	0.478000													13	53					0	0	0.411799	0	0
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:147090735A>C	ENST00000234739.3	+	8	1514	c.774A>C	c.(772-774)ccA>ccC	p.P258P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592000			T	"""IGH@, IGL@"""	B-ALL								7	56					0	0	0.335167	0	0
APOB	338	broad.mit.edu	37	2	21226162	21226162	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:21226162C>T	ENST00000233242.1	-	29	12259	c.12132G>A	c.(12130-12132)agG>agA	p.R4044R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4044					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCCCGGACCCTCAACTCAG	0.393000													105	232					0	0	0.870114	0	0
GRM6	2916	broad.mit.edu	37	5	178418950	178418950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418950C>A	ENST00000231188.5	-	2	817	c.639G>T	c.(637-639)tgG>tgT	p.W213C	GRM6_ENST00000517717.1_Missense_Mutation_p.W213C	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACATAGTTCCATCCCAGTG	0.622000													9	21					2.74318e-10	3.00443e-10	0.335167	1	0
MFSD6	54842	broad.mit.edu	37	2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:191301884G>A	ENST00000392328.1	+	3	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I	MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	377					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						CGTCTTCGGCGTTCTCATGAC	0.512000													19	29					0	0	0.539581	0	0
MRTO4	51154	broad.mit.edu	37	1	19583994	19583994	+	Missense_Mutation	SNP	G	G	A	rs114437725	byFrequency	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:19583994G>A	ENST00000330263.4	+	5	617	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	107					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACCAACCGCACAAAGGAG	0.522000													4	136					0	0	0.184627	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122495	12122495	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:12122495G>C	ENST00000379388.2	+	4	2799	c.2467G>C	c.(2467-2469)Gtg>Ctg	p.V823L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	823					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCAAAGCAAGTGTTTCTTCT	0.403000													80	34					0	0	0.870114	0	0
ZFP42	132625	broad.mit.edu	37	4	188924355	188924355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:188924355C>T	ENST00000326866.4	+	4	802	c.394C>T	c.(394-396)Cca>Tca	p.P132S	ZFP42_ENST00000509524.1_Missense_Mutation_p.P132S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	132					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGAGCTTCCACAAAAGAT	0.418000													46	76					0	0	0.864702	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													2	11					0	0	0.115264	0	0
PRDM13	59336	broad.mit.edu	37	6	100062566	100062566	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:100062566C>G	ENST00000369214.1	+	4	2346	c.2085C>G	c.(2083-2085)gaC>gaG	p.D695E	PRDM13_ENST00000369215.4_Missense_Mutation_p.D685E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGACAGTGACGTGGACGTCT	0.701000													21	11					0	0	0.624587	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685930	125685930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:125685930C>T	ENST00000371126.1	-	1	904	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	221										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGGTCCATCCGCCACAGCGC	0.657000													17	25					0	0	0.520397	0	0
OPHN1	4983	broad.mit.edu	37	X	67283790	67283790	+	Silent	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:67283790G>T	ENST00000355520.5	-	21	2705	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	688	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCCATTGGTGGCCTTTGGGG	0.607000													13	26					1.5739e-10	1.75159e-10	0.500413	1	0
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			39	72					0	0	0.819951	0	0
OR3A2	4995	broad.mit.edu	37	17	3181629	3181629	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:3181629T>A	ENST00000408891.2	-	1	639	c.601A>T	c.(601-603)Acc>Tcc	p.T201S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	201					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTGAGTTGGGTGCTGGAGCAG	0.552000													29	60					0	0	0.760397	0	0
OR2D2	120776	broad.mit.edu	37	11	6913294	6913294	+	Silent	SNP	T	T	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:6913294T>C	ENST00000299459.2	-	1	536	c.438A>G	c.(436-438)acA>acG	p.T146T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCATGATCCTGTTGCCAGCT	0.493000													3	68					0	0	0.115264	0	0
RB1	5925	broad.mit.edu	37	13	48953728	48953728	+	Splice_Site	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr13:48953728A>G	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGTTTGTAGCGATACAAA	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	7					0	0	0.335167	0	0
C4BPB	725	broad.mit.edu	37	1	207265091	207265091	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:207265091T>A	ENST00000243611.5	+	3	629	c.335T>A	c.(334-336)aTc>aAc	p.I112N	C4BPB_ENST00000367078.3_Missense_Mutation_p.I112N|C4BPB_ENST00000451804.2_Missense_Mutation_p.I102N|C4BPB_ENST00000391923.1_Missense_Mutation_p.I112N|C4BPB_ENST00000367076.3_Missense_Mutation_p.I111N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GACCACTACATCCTCAAGGGC	0.493000													7	57					0	0	0.278610	0	0
APEX2	27301	broad.mit.edu	37	X	55033526	55033526	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:55033526A>T	ENST00000374987.3	+	6	1281	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	405					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGTCCCCAAGCCTCTCCTG	0.587000								Other BER factors					9	18					0	0	0.307466	0	0
CXorf22	170063	broad.mit.edu	37	X	35985795	35985795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:35985795C>T	ENST00000297866.5	+	10	1726	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										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						CTTGGCAAAACGCAAGAATTA	0.393000													16	51					0	0	0.520397	0	0
ANO9	338440	broad.mit.edu	37	11	418583	418583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:418583C>T	ENST00000332826.6	-	23	2221	c.2137G>A	c.(2137-2139)Gcc>Acc	p.A713T		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	713						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATGCACAAGGCCACGTGCTAG	0.627000													23	36					0	0	0.608945	0	0
PARP1	142	broad.mit.edu	37	1	226553737	226553737	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:226553737G>C	ENST00000366794.5	-	18	2566	c.2423C>G	c.(2422-2424)tCt>tGt	p.S808C	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	808	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTTCTTCAGAATCTCTGTC	0.448000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	45					0	0	0.115264	0	0
PCDHB13	0	broad.mit.edu	37	5	140594885	140594885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:140594885C>T	ENST00000341948.4	+	1	1377	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCCGCGGAAAACTTT	0.453000													25	52					0	0	0.654019	0	0
LGALS9C	654346	broad.mit.edu	37	17	18396173	18396173	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:18396173G>A	ENST00000328114.6	+	10	1005	c.924_splice	c.e10+1	p.S308_splice	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Splice_Site_p.S220_splice|LGALS9C_ENST00000583322.1_Splice_Site_p.S275_splice	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	308	Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGAGCTTCTCGGTAAGGCGCC	0.592000													8	19					0	0	0.457914	0	0
RXFP1	59350	broad.mit.edu	37	4	159526262	159526262	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:159526262C>T	ENST00000307765.5	+	5	686	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RXFP1_ENST00000460056.2_Silent_p.C64C|RXFP1_ENST00000448688.2_Silent_p.C64C|RXFP1_ENST00000423548.1_Silent_p.C145C|RXFP1_ENST00000470033.1_Silent_p.C112C|RXFP1_ENST00000343542.5_Silent_p.C145C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	145						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCCTGATTGCTTCAAGAATT	0.299000													10	24					0	0	0.387290	0	0
CRNN	49860	broad.mit.edu	37	1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	rs150002541	by1000genomes	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152382287C>T	ENST00000271835.3	-	3	1333	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	424					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602000													17	37					0	0	0.500413	0	0
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													7	258	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs146650273		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(952-957)ctctttfs	p.F319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			57	23	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													2	4	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													3	5	---	---	---	---