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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AL117485	0	broad.mit.edu	37	22	18845995	18845995	+	RNA	SNP	T	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:18845995T>C	uc002zoe.3	+	4		c.2357T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CATCCCGTCCTGCGCAGGCCG	0.592000														38			4		0	0	0.021553	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763803	14763803	+	Silent	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:14763803G>A	uc010dlo.2	+	6	1119	c.939G>A	c.(937-939)acG>acA	p.T313T	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.T313T	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	313								p.G312V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGGAGGGAACGTCTGCCAAAA	0.478000														12			8		0	0	0.038147	0	0
LOC646214	646214	broad.mit.edu	37	15	21936480	21936480	+	RNA	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:21936480C>T	uc010tzj.1	-	0		c.4260G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTTTAAACCCCCAAAAGAGTA	0.333000														33			3		0	0	0.004672	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890206	228890206	+	Silent	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:228890206G>A	uc002vpq.2	-	4	392	c.345C>T	c.(343-345)atC>atT	p.I115I	SPHKAP_uc002vpp.2_Silent_p.I115I|SPHKAP_uc010zlx.1_Silent_p.I115I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	115						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATGGAACTGATAAGTTTTG	0.363000														96			5		0	0	0.021553	0	0
CD70	970	broad.mit.edu	37	19	6590911	6590911	+	Missense_Mutation	SNP	C	T	T	rs148772362		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:6590911C>T	uc010xjf.1	-	0	253	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	CD70_uc002mfi.3_Missense_Mutation_p.V35M	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	35					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						ATGCACACCACGAGGCAGATC	0.627000														57			29		0	0	0.041601	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263412	232263412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:232263412G>A	uc002vrs.3	+	1	1162	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	328					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GATCGACGACGTCTTTCTGGG	0.672000														34			16		0	0	0.028581	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681681	233681681	+	Missense_Mutation	SNP	G	A	A	rs149585458		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:233681681G>A	uc002vtj.4	+	21	2639	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	GIGYF2_uc010zmj.1_Missense_Mutation_p.R770Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R764Q|GIGYF2_uc002vti.4_Missense_Mutation_p.R770Q|GIGYF2_uc002vtk.4_Missense_Mutation_p.R770Q|GIGYF2_uc002vth.4_Missense_Mutation_p.R764Q|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.R601Q|GIGYF2_uc002vtq.4_Missense_Mutation_p.R103Q	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	770	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAATTCTTCGGCGACAGCAG	0.488000														105			65		0	0	0.048971	0	0
DDC	1644	broad.mit.edu	37	7	50611629	50611629	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:50611629G>A	uc003tpg.4	-	1	356	c.155C>T	c.(154-156)aCg>aTg	p.T52M	DDC_uc022ade.1_Missense_Mutation_p.T52M|DDC_uc003tpf.4_Missense_Mutation_p.T52M|DDC_uc022adb.1_Missense_Mutation_p.T52M|DDC_uc022adc.1_Missense_Mutation_p.T52M|DDC_uc022add.1_Missense_Mutation_p.T52M|DDC_uc022adf.1_Missense_Mutation_p.T52M	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	52					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTCCTCAAACGTGTCTGGCTC	0.557000														136			37		0	0	0.080422	0	0
PROM1	8842	broad.mit.edu	37	4	15991422	15991422	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:15991422A>G	uc003goo.2	-	17	2221	c.2009T>C	c.(2008-2010)cTg>cCg	p.L670P	PROM1_uc003gor.2_Missense_Mutation_p.L670P|PROM1_uc003gos.2_Missense_Mutation_p.L661P|PROM1_uc003got.2_Missense_Mutation_p.L670P|PROM1_uc003gou.2_Missense_Mutation_p.L661P|PROM1_uc003gop.2_Missense_Mutation_p.L661P|PROM1_uc003goq.3_Missense_Mutation_p.L661P	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	670					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATCTCTTTTCAGGGAGTTCCT	0.413000														5			4		0	0	0.021553	0	0
PKHD1	5314	broad.mit.edu	37	6	51882309	51882309	+	Silent	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr6:51882309C>T	uc003pah.1	-	33	5775	c.5499G>A	c.(5497-5499)tcG>tcA	p.S1833S	PKHD1_uc003pai.3_Silent_p.S1833S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1833			S -> L (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTAAGGCCACGATTCAAGCA	0.512000														105			25		0	0	0.091800	0	0
KCNS3	3790	broad.mit.edu	37	2	18113581	18113581	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:18113581C>A	uc021veh.1	+	0	1306	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	KCNS3_uc002rcv.3_Missense_Mutation_p.P436T|KCNS3_uc002rcw.3_Missense_Mutation_p.P436T	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	436					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATGAGCTACCTTACTTTAA	0.453000														61			32		5.09552e-08	5.50316e-08	0.045705	1	0
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:220100575C>T	uc002vkg.3	+	11	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_uc002vkh.3_Missense_Mutation_p.A440V|ANKZF1_uc002vki.3_Missense_Mutation_p.A650V	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	650						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622000														102			4		0	0	0.009096	0	0
HCN4	10021	broad.mit.edu	37	15	73615766	73615766	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615766G>A	uc002avp.3	-	7	3662	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGAGCCGAGGGGGAGCCACAG	0.677000														7			6		0	0	0.021553	0	0
PPEF2	5470	broad.mit.edu	37	4	76812812	76812812	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:76812812C>T	uc003hix.3	-	3	587	c.230G>A	c.(229-231)aGc>aAc	p.S77N	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.S77N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	77					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTCGTTGTGGCTGCTGGGGAT	0.522000														173			85		0	0	0.048971	0	0
AK302879	0	broad.mit.edu	37	15	76073329	76073329	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:76073329C>T	uc010umm.1	+	6	522	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		TCTGGCTGGCCGCCTGCAATA	0.527000														46			3		0	0	0.004672	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434170	69434170	+	Silent	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:69434170C>T	uc021xov.1	-	0	76	c.33G>A	c.(31-33)ctG>ctA	p.L11L		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	11					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGAGCTGCATCAGCAGAAAGA	0.423000														288			43		0	0	0.048971	0	0
DEPDC5	9681	broad.mit.edu	37	22	32302244	32302244	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32302244C>T	uc011alu.2	+	42	4775	c.4573C>T	c.(4573-4575)Cgg>Tgg	p.R1525W	DEPDC5_uc011als.2_Missense_Mutation_p.R1425W|DEPDC5_uc003als.3_Missense_Mutation_p.R1494W|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1516W|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R943W|DEPDC5_uc003alw.3_Missense_Mutation_p.R792W|DEPDC5_uc011alx.2_Missense_Mutation_p.R342W|DEPDC5_uc010gwk.3_Missense_Mutation_p.A529V|DEPDC5_uc011aly.2_Missense_Mutation_p.R342W	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1494					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGGCAGCAGCGGCGGCGGCG	0.607000														26			9		0	0	0.020292	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941802	12941802	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12941802C>T	uc001aun.2	-	2	819	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	250										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGGGAAACGTAGCGAGAG	0.488000														159			78		0	0	0.048971	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176070	140176070	+	Silent	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140176070C>T	uc003lhd.2	+	0	1627	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.Y507Y|PCDHAC2_uc011czy.2_Silent_p.Y507Y	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	521	Cadherin 5.				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)			TGTCGAGCTACGTTTCGGTGC	0.682000														38			11		0	0	0.024245	0	0
C15orf42	90381	broad.mit.edu	37	15	90167424	90167424	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:90167424C>A	uc002boe.3	+	19	3883	c.3883C>A	c.(3883-3885)Cca>Aca	p.P1295T	C15orf42_uc021sug.1_Missense_Mutation_p.P1294T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1295	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCAAAAAGACCAGGGAATTC	0.453000														86			42		9.39024e-22	1.08658e-21	0.111260	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449891	105449891	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chrX:105449891G>A	uc022cca.1	+	0	466	c.466G>A	c.(466-468)Gca>Aca	p.A156T	MUM1L1_uc004emg.2_Missense_Mutation_p.A156T|MUM1L1_uc004emf.2_Missense_Mutation_p.A156T	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	156										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCTTGTTAGCATCTTCAGA	0.413000														6			13		0	0	0.105934	0	0
abParts	0	broad.mit.edu	37	14	107062306	107062306	+	RNA	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr14:107062306C>T	uc021ser.1	-	150		c.6680G>A								Parts of antibodies, mostly variable regions.																		TGGGGGCTGGCGGACCCAGAT	0.587000														24			12		0	0	0.020292	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476848	20476848	+	Nonsense_Mutation	SNP	C	T	T	rs146541514		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr16:20476848C>T	uc010bwe.3	+	3	426	c.187C>T	c.(187-189)Cga>Tga	p.R63*	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R63*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R63*|ACSM2A_uc010vay.2_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	63					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGGCAAGCGACTCCCAAG	0.517000														23			6		0	0	0.029380	0	0
RPL10L	140801	broad.mit.edu	37	14	47120403	47120403	+	Silent	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr14:47120403G>A	uc001wwg.3	-	0	626	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	179					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTCAAATTCGTCAGCATTAA	0.517000														73			25		0	0	0.108266	0	0
CLCN2	1181	broad.mit.edu	37	3	184075764	184075764	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:184075764G>A	uc003foi.3	-	4	725	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.P201S|CLCN2_uc011brl.2_Missense_Mutation_p.P201S|CLCN2_uc011brm.2_Missense_Mutation_p.P157S|CLCN2_uc011brn.1_Missense_Mutation_p.P201S	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	201						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGCCAAGCGGCATCCCGCTG	0.597000														43			3		0	0	0.009096	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124176	10124176	+	Splice_Site	SNP	A	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:10124176A>G	uc001qwq.3	+	2	42	c.11_splice	c.e2-1	p.D4_splice	CLEC12A_uc001qwr.4_5'UTR|CLEC12A_uc001qws.4_5'UTR|CLEC12A_uc001qwt.3_Splice_Site	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	0						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CTTTGTCAAGATTTCTTTACA	0.318000														31			18		0	0	0.049695	0	0
SBSPON	157869	broad.mit.edu	37	8	73993373	73993373	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr8:73993373C>T	uc003xzf.3	-	1	495	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	97	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CGAGCGCCTCCGCACACGGGT	0.657000														86			5		0	0	0.014758	0	0
NF1	4763	broad.mit.edu	37	17	29663747	29663747	+	Nonsense_Mutation	SNP	T	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29663747T>G	uc002hgg.3	+	41	6625	c.6242T>G	c.(6241-6243)tTa>tGa	p.L2081*	NF1_uc002hgh.3_Nonsense_Mutation_p.L2060*|NF1_uc010cso.3_Nonsense_Mutation_p.L269*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2081					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.0?(8)|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)		ATTGCTATTTTAGCACGCTAC	0.408000			"""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)				60			23		0	0	0.083992	0	0
EXPH5	23086	broad.mit.edu	37	11	108381685	108381685	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108381685G>T	uc001pkk.3	-	5	4660	c.4549C>A	c.(4549-4551)Cta>Ata	p.L1517I	EXPH5_uc010rvz.2_Missense_Mutation_p.L1361I|EXPH5_uc010rvy.2_Missense_Mutation_p.L1329I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1517					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAAGCTGTAGTTTATGCAAT	0.433000														27			8		1.26484e-09	1.38449e-09	0.038147	1	0
DAPK1	1612	broad.mit.edu	37	9	90301560	90301560	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr9:90301560G>A	uc004apc.3	+	20	2457	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	DAPK1_uc004apd.3_Missense_Mutation_p.M773I|DAPK1_uc011ltg.2_Missense_Mutation_p.M773I|DAPK1_uc011lth.2_Missense_Mutation_p.M510I	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	773					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAAAGGGATGCTGGAGGTGT	0.577000									Chronic Lymphocytic Leukemia, Familial Clustering of					10			10		0	0	0.058154	0	0
TRIM51	84767	broad.mit.edu	37	11	55653034	55653034	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:55653034C>T	uc010rip.2	+	1	222	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	44						intracellular	zinc ion binding										CCTCAACTGGCAAGACACGGC	0.507000														24			7		0	0	0.029380	0	0
UBE2M	9040	broad.mit.edu	37	19	59068093	59068093	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:59068093T>C	uc002qtl.4	-	3	903	c.308A>G	c.(307-309)aAc>aGc	p.N103S	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	103					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGTCAATGTTGGGGTGATA	0.582000														30			16		0	0	0.033300	0	0
MC3R	4159	broad.mit.edu	37	20	54824776	54824776	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:54824776G>A	uc002xxb.2	+	0	989	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	330					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGCAACTCCGTCATCGACCC	0.552000														129			6		0	0	0.029380	0	0
COPB1	1315	broad.mit.edu	37	11	14507918	14507918	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:14507918T>C	uc001mlh.2	-	6	1078	c.832A>G	c.(832-834)Atc>Gtc	p.I278V	COPB1_uc001mli.2_Missense_Mutation_p.I278V|COPB1_uc001mlg.2_Missense_Mutation_p.I278V	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	278					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGTACCTTGATTGCAGTTGGT	0.383000														158			5		0	0	0.021553	0	0
CPNE8	144402	broad.mit.edu	37	12	39087538	39087538	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:39087538T>C	uc001rls.1	-	14	1148	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	CPNE8_uc001rlr.1_Missense_Mutation_p.D14G	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	355	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTATCACTGTCATAATCTTG	0.418000														112			3		0	0	0.004672	0	0
ACACA	31	broad.mit.edu	37	17	35631165	35631165	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:35631165A>T	uc002hnm.3	-	8	1007	c.816T>A	c.(814-816)aaT>aaA	p.N272K	ACACA_uc002hnk.3_Missense_Mutation_p.N194K|ACACA_uc002hnl.3_Missense_Mutation_p.N214K|ACACA_uc002hnn.3_Missense_Mutation_p.N272K|ACACA_uc002hno.3_Missense_Mutation_p.N309K|ACACA_uc010cuz.3_Missense_Mutation_p.N272K|ACACA_uc002hnq.2_Missense_Mutation_p.N194K	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	272	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGAAAAATCATTTTCCTGCC	0.408000														62			8		0	0	0.069234	0	0
CDK12	51755	broad.mit.edu	37	17	37687042	37687042	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:37687042C>A	uc010cvv.3	+	13	4532	c.3946C>A	c.(3946-3948)Ctg>Atg	p.L1316M	CDK12_uc002hrw.4_Missense_Mutation_p.L1307M	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1316					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCCTGGCCACCTGCCACATGA	0.582000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				102			4		0.00909568	0.00956818	0.009096	1	0
CCKAR	886	broad.mit.edu	37	4	26483467	26483467	+	Silent	SNP	G	A	A	rs150897748		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:26483467G>A	uc003gse.1	-	4	1233	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGAGGAGGTGTAGGACAGGA	0.627000														81			20		0	0	0.049695	0	0
FSCB	84075	broad.mit.edu	37	14	44974724	44974724	+	Silent	SNP	G	A	A	rs147203426		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr14:44974724G>A	uc001wvn.3	-	0	1776	c.1467C>T	c.(1465-1467)gcC>gcT	p.A489A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	489	Ala-rich.					cilium		p.A489A(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACCGAGCTTCGGCAGGAGTTT	0.502000														31			7		0	0	0.058154	0	0
SFI1	9814	broad.mit.edu	37	22	32013006	32013006	+	Missense_Mutation	SNP	G	C	C	rs143349198	by1000genomes	TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32013006G>C	uc003ale.3	+	30	3847	c.3454G>C	c.(3454-3456)Gaa>Caa	p.E1152Q	SFI1_uc003alf.3_Missense_Mutation_p.E1121Q|SFI1_uc003alg.3_Missense_Mutation_p.E1070Q|SFI1_uc011alp.2_Missense_Mutation_p.E1058Q|SFI1_uc011alq.2_Missense_Mutation_p.E1097Q|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Missense_Mutation_p.E244Q|SFI1_uc003alj.3_Missense_Mutation_p.E286Q	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	1152					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCTTGAGGCTGAACTTGAGGA	0.567000														28			16		0	0	0.038395	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475880	140475880	+	Silent	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140475880C>T	uc003lil.3	+	0	1644	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	PCDHB2_uc003lim.1_Silent_p.L163L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCCTGG	0.692000														89			13		0	0	0.024245	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423751	107423751	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:107423751C>T	uc003ver.2	-	8	1229	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_uc003ves.2_Missense_Mutation_p.V305I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	340					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418000														77			19		0	0	0.049695	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349322	58349322	+	Silent	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:58349322G>A	uc002yau.3	+	6	1418	c.951G>A	c.(949-951)ggG>ggA	p.G317G	PHACTR3_uc002yat.3_Silent_p.G314G|PHACTR3_uc010zzw.2_Silent_p.G276G|PHACTR3_uc002yav.3_Silent_p.G276G|PHACTR3_uc002yaw.3_Silent_p.G276G|PHACTR3_uc002yax.3_Silent_p.G206G	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	317						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)			AAAGTAAAGGGTCTCCAAAGA	0.527000														34			14		0	0	0.105934	0	0
MS4A6E	245802	broad.mit.edu	37	11	60107365	60107365	+	Silent	SNP	T	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:60107365T>A	uc001npd.3	+	2	395	c.381T>A	c.(379-381)tcT>tcA	p.S127S		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	127						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCTGGTTTCTACTGTGTTGG	0.493000														175			68		0	0	0.048971	0	0
RYR2	6262	broad.mit.edu	37	1	237777663	237777663	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:237777663A>T	uc001hyl.1	+	36	5355	c.5235A>T	c.(5233-5235)aaA>aaT	p.K1745N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1745	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H1744R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAACAAAAAACACGGCCTTC	0.517000														19			10		0	0	0.080935	0	0
FZD10	11211	broad.mit.edu	37	12	130648631	130648631	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:130648631G>A	uc001uii.3	+	0	1628	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	382					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGAGCTCACCGGGGTCTGCTA	0.647000														37			18		0	0	0.043863	0	0
MARCH11	441061	broad.mit.edu	37	5	16067657	16067657	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:16067657T>C	uc003jfo.2	-	3	1345	c.1132A>G	c.(1132-1134)Aat>Gat	p.N378D	MARCH11_uc010itw.1_Missense_Mutation_p.N134D	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	378						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CTCATCCGATTGAACAGGTGC	0.478000														116			41		0	0	0.111260	0	0
TCHH	7062	broad.mit.edu	37	1	152082385	152082385	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:152082385C>T	uc009wne.1	-	2	3580	c.3308G>A	c.(3307-3309)cGc>cAc	p.R1103H	TCHH_uc001ezp.2_Missense_Mutation_p.R1103H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1103	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGCGCCTTCTCTT	0.612000														42			19		0	0	0.055883	0	0
HCN4	10021	broad.mit.edu	37	15	73615765	73615765	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615765G>A	uc002avp.3	-	7	3663	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGAGCCGAGGGGGAGCCACA	0.672000														7			5		0	0	0.014758	0	0
INHBA	3624	broad.mit.edu	37	7	41729539	41729539	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:41729539G>T	uc003thq.3	-	1	1225	c.990C>A	c.(988-990)ttC>ttA	p.F330L	INHBA_uc003thr.3_Missense_Mutation_p.F330L	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	330					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGATGTCCTTGAAACTGACAA	0.567000										TSP Lung(11;0.080)				125			36		3.6622e-26	4.2991e-26	0.064281	1	0
PDIA6	10130	broad.mit.edu	37	2	10929977	10929977	+	Silent	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:10929977G>A	uc002rau.3	-	7	876	c.738C>T	c.(736-738)ggC>ggT	p.G246G	PDIA6_uc010yjg.2_Silent_p.G243G|PDIA6_uc002rav.3_Silent_p.G298G|PDIA6_uc010yjh.2_Silent_p.G251G|PDIA6_uc002raw.3_Silent_p.G294G	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	246	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAGGAGACTCGCCTTTCTGAA	0.423000														54			21		0	0	0.069288	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152273	66152273	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:66152273T>G	uc001sso.3	-	1	671	c.250A>C	c.(250-252)Agt>Cgt	p.S84R						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		TCTGACCCACTGAGGGAGCTC	0.498000														11			5		0	0	0.021553	0	0
MYO15A	51168	broad.mit.edu	37	17	18053797	18053797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:18053797G>A	uc021trm.1	+	34	7486	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_uc021trl.1_Missense_Mutation_p.G2421S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					AGGCCAGCCCGGTGGAGGCAG	0.617000														37			10		0	0	0.080935	0	0
CD1E	913	broad.mit.edu	37	1	158324220	158324220	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:158324220C>T	uc001fse.3	+	1	405	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	CD1E_uc010pid.2_Missense_Mutation_p.R36C|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R38C|CD1E_uc001fsf.3_Missense_Mutation_p.R38C|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.R38C|CD1E_uc001fsk.3_Missense_Mutation_p.R38C|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R38C|CD1E_uc001frz.3_Missense_Mutation_p.R38C|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	38					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.R38C(2)		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)					GCTGTCCTTCCGCATGCTCCA	0.542000														86			27		0	0	0.108266	0	0
LRRC3	81543	broad.mit.edu	37	21	45877263	45877263	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr21:45877263G>A	uc021wjs.1	+	0	736	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	LRRC3_uc002zfa.3_Missense_Mutation_p.A246T	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	246						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTGCCCAGCGCCCCCGCCTC	0.652000														28			12		0	0	0.020292	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858178	149858178	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:149858178C>T	uc001etc.3	-	0	55	c.13G>A	c.(13-15)Gca>Aca	p.A5T	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	5				A -> S (in Ref. 7; AAH98112/AAH98289).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.P4L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGATTTTGCCGGTTCAGGC	0.507000														45			3		0	0	0.004672	0	0
FAT4	79633	broad.mit.edu	37	4	126239159	126239159	+	Silent	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:126239159C>T	uc003ifj.4	+	0	1593	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAGCGGCCTCGTGACCACTG	0.547000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			14		0	0	0.024245	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008358	56008358	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:56008358A>G	uc002lgy.3	+	13	1497	c.1214A>G	c.(1213-1215)aAt>aGt	p.N405S	NEDD4L_uc002lgz.3_Intron|NEDD4L_uc002lgx.3_Missense_Mutation_p.N385S|NEDD4L_uc010xee.1_Missense_Mutation_p.N284S|NEDD4L_uc002lhc.2_Missense_Mutation_p.N397S|NEDD4L_uc002lhd.2_Missense_Mutation_p.N284S|NEDD4L_uc002lhb.2_Missense_Mutation_p.N264S|NEDD4L_uc002lhe.2_Missense_Mutation_p.N377S|NEDD4L_uc002lhf.3_Missense_Mutation_p.N264S|NEDD4L_uc002lhg.3_Missense_Mutation_p.N284S|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	405	WW 2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTATGTCAATCATAACAAT	0.478000														7			4		0	0	0.009096	0	0
GRM3	2913	broad.mit.edu	37	7	86415593	86415593	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:86415593G>A	uc003uid.3	+	2	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	GRM3_uc010lef.3_Missense_Mutation_p.R160Q|GRM3_uc010leg.3_Missense_Mutation_p.R34Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	162					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCTGCTGCGGCTCTTCCAG	0.522000														232			63		0	0	0.048971	0	0
C2orf63	130162	broad.mit.edu	37	2	55404777	55404777	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:55404777C>G	uc002ryi.2	-	11	1871	c.1525G>C	c.(1525-1527)Ggc>Cgc	p.G509R	C2orf63_uc002ryh.2_Missense_Mutation_p.G60R|C2orf63_uc002ryj.2_Missense_Mutation_p.G387R	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	509							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AGCTTAATGCCAACTTTTTTC	0.353000														45			16		0	0	0.038395	0	0
SDK2	54549	broad.mit.edu	37	17	71410870	71410870	+	Silent	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:71410870G>A	uc010dfm.3	-	17	2397	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	SDK2_uc010dfn.2_Silent_p.H478H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	799	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.H799H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCCGCGTGCACATTGC	0.597000														25			14		0	0	0.033300	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013546	17013546	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:17013546C>T	uc002nfb.3	-	34	4771	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q	CPAMD8_uc002nfd.1_Missense_Mutation_p.R45Q	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1533						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						CCAGTCTCCTCGGGAACCCTC	0.657000														53			6		0	0	0.021553	0	0
BRAF	673	broad.mit.edu	37	7	140453154	140453154	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:140453154T>C	uc003vwc.4	-	14	1842	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594G(78)|p.D594N(14)|p.D594V(6)|p.D594K(3)|p.D594H(2)|p.G593D(2)|p.D594E(2)|p.D594_T599del(1)|p.D594D(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACCAAAATCACCTATTTT	0.373000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					82			21		0	0	0.069288	0	0
GGT1	2678	broad.mit.edu	37	22	25019873	25019873	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:25019873A>G	uc003aan.1	+	10	1497	c.1010A>G	c.(1009-1011)gAt>gGt	p.D337G	GGT1_uc003aas.1_Missense_Mutation_p.D337G|GGT1_uc003aat.1_Missense_Mutation_p.D337G|GGT1_uc003aau.2_Missense_Mutation_p.D337G|GGT1_uc003aav.2_Missense_Mutation_p.D337G|GGT1_uc003aaw.2_Missense_Mutation_p.D337G|GGT1_uc003aax.2_Missense_Mutation_p.D337G	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	337					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AAGTTTGTGGATGTGACTGAG	0.627000														17			3		0	0	0.004672	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213247	56213247	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:56213247G>A	uc001shw.1	+	2	388	c.296G>A	c.(295-297)cGc>cAc	p.R99H	DNAJC14_uc009zoa.2_5'Flank|DNAJC14_uc001shs.3_5'Flank|DNAJC14_uc001sht.3_5'Flank|DNAJC14_uc001shu.2_Intron|DNAJC14_uc001shv.4_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	Homo sapiens ORM1-like 2 (S. cerevisiae) (ORMDL2), mRNA.	99					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		p.S98S(1)		kidney(1)|lung(3)	4						ACCTCTTCCCGCAAGTTCCTC	0.512000														136			5		0	0	0.029380	0	0
EXPH5	23086	broad.mit.edu	37	11	108382533	108382533	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108382533G>C	uc001pkk.3	-	5	3812	c.3701C>G	c.(3700-3702)aCg>aGg	p.T1234R	EXPH5_uc010rvz.2_Missense_Mutation_p.T1078R|EXPH5_uc010rvy.2_Missense_Mutation_p.T1046R	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1234					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACAGAAAACGTACTAGTCGT	0.373000														86			24		0	0	0.083992	0	0
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	T	T	rs57374291		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr10:89692835G>T	uc001kfb.3	+	4	1351	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(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)		CTTTTGTGAAGATCTTGACCA	0.368000		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)				41			22		1.36565e-18	1.55799e-18	0.076483	1	0
HTR3C	170572	broad.mit.edu	37	3	183774718	183774718	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:183774718C>T	uc003fmk.3	+	4	479	c.445C>T	c.(445-447)Cga>Tga	p.R149*		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.R149*(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGAAGGTCGAATTAAGTA	0.478000														100			37		0	0	0.092188	0	0
COBLL1	22837	broad.mit.edu	37	2	165578649	165578649	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:165578649G>T	uc002ucp.3	-	5	1154	c.932C>A	c.(931-933)gCa>gAa	p.A311E	COBLL1_uc002ucq.3_Missense_Mutation_p.A311E|COBLL1_uc010zcw.2_Missense_Mutation_p.A377E|COBLL1_uc010zcx.2_Missense_Mutation_p.A357E|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.A80E	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	349										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGGATGTGTGCAAGGTCTTG	0.488000														57			21		2.37509e-13	2.63538e-13	0.055883	1	0
NF1	4763	broad.mit.edu	37	17	29548901	29548901	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29548901delG	uc002hgg.3	+	14	2058	c.1675delG	c.(1675-1677)gatfs	p.D559fs	NF1_uc002hgf.2_Frame_Shift_Del_p.D559fs|NF1_uc002hgh.3_Frame_Shift_Del_p.D559fs|NF1_uc010csn.2_Frame_Shift_Del_p.D419fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	559					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	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)		AGATAGCATTGATTTGTGGAA	0.289			"""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)			---	45	---	---	23	---					
