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
KIAA0090	23065	broad.mit.edu	37	1	19565777	19565777	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:19565777G>A	uc001bbo.3	-	8	1017	c.974C>T	c.(973-975)gCc>gTc	p.A325V	KIAA0090_uc001bbp.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbq.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbr.3_Missense_Mutation_p.A303V	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	325						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGTGGTGGCAAAGCTCAC	0.542												
PLA2G2F	64600	broad.mit.edu	37	1	20470022	20470022	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:20470022G>A	uc009vpp.1	+	2	351	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	42					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTGTCCTTCGTGGGCTACGG	0.637												
SPTA1	6708	broad.mit.edu	37	1	158626392	158626392	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:158626392T>A	uc001fst.1	-	19	3059	c.2860A>T	c.(2860-2862)Agt>Tgt	p.S954C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	954					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTCATACTGTCTCCAAAT	0.408												
LY9	4063	broad.mit.edu	37	1	160793477	160793477	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:160793477A>G	uc001fwu.3	+	7	1771	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	LY9_uc001fwv.3_Missense_Mutation_p.D560G|LY9_uc001fww.3_Missense_Mutation_p.D484G|LY9_uc001fwy.1_Missense_Mutation_p.D372G|LY9_uc001fwz.3_Missense_Mutation_p.D212G	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	574					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGGACATGACCCAGCCCCT	0.537												
CEP350	9857	broad.mit.edu	37	1	179972355	179972355	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:179972355G>A	uc001gnt.3	+	6	1448	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.3_Silent_p.V189V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	355						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGGGAAAGTGTGGCAGGAGG	0.373												
LARP4B	23185	broad.mit.edu	37	10	882389	882389	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:882389C>T	uc001ifs.1	-	6	745	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	235	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.R235C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TACTATGCAGCGATTTTGATT	0.353												
CDH23	64072	broad.mit.edu	37	10	73462359	73462359	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:73462359T>C	uc001jrx.4	+	22	3025	c.2635T>C	c.(2635-2637)Ttg>Ctg	p.L879L	CDH23_uc001jry.3_Silent_p.L879L|CDH23_uc001jrz.3_Silent_p.L879L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	881	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGAACCTCTTGGATCTCAA	0.577												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				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.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(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)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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)		
CALHM2	51063	broad.mit.edu	37	10	105209447	105209447	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:105209447G>A	uc001kxa.3	-	2	863	c.252C>T	c.(250-252)gcC>gcT	p.A84A	CALHM2_uc001kxc.3_Silent_p.A84A|CALHM2_uc001kxb.3_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	84						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCTGGCACTCGGCCACGAGGT	0.647												
JAKMIP3	282973	broad.mit.edu	37	10	133954043	133954043	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:133954043C>T	uc001lkx.4	+	8	1433	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGACAGGACGGACCAGACC	0.607												
EIF3M	10480	broad.mit.edu	37	11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:32615446G>A	uc001mtu.3	+	5	611	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_uc010ref.2_Missense_Mutation_p.G58R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	190						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388												
MS4A14	84689	broad.mit.edu	37	11	60183725	60183725	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:60183725T>C	uc001npj.3	+	4	1849	c.1284T>C	c.(1282-1284)ccT>ccC	p.P428P	MS4A14_uc001npi.3_Silent_p.P316P|MS4A14_uc001npn.3_Silent_p.P166P|MS4A14_uc001npk.3_Silent_p.P411P|MS4A14_uc001npl.3_Silent_p.P166P|MS4A14_uc001npm.3_Silent_p.P166P	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	428	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGCAGTTCCCTGAAATACAAC	0.423												
HEPHL1	341208	broad.mit.edu	37	11	93796724	93796724	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:93796724G>T	uc001pep.2	+	2	623	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	156	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGATGACATGGTTCCTCCTGG	0.433												
PIWIL4	143689	broad.mit.edu	37	11	94335056	94335056	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:94335056C>T	uc001pfa.3	+	11	1687	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	492					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTATGTAGCGACAGAACTG	0.423												
ANO2	57101	broad.mit.edu	37	12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:5908716G>A	uc001qnm.2	-	9	1072	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423												
VWF	7450	broad.mit.edu	37	12	6128359	6128359	+	Missense_Mutation	SNP	C	C	T	rs61750078		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:6128359C>T	uc001qnn.1	-	27	4475	c.4225G>A	c.(4225-4227)Gtc>Atc	p.V1409I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1409	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACAATGACCTTCTTCTTC	0.607												
ELK3	2004	broad.mit.edu	37	12	96641080	96641080	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:96641080C>T	uc001teo.1	+	2	849	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	190					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAATAAAACCGACAAGCACG	0.622												
UGGT2	55757	broad.mit.edu	37	13	96648323	96648323	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr13:96648323T>A	uc001vmt.3	-	6	994	c.824A>T	c.(823-825)aAa>aTa	p.K275I	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.K275I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	275					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTTTAGTTTCCCAAAGAG	0.313												
C14orf135	64430	broad.mit.edu	37	14	60582118	60582118	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr14:60582118C>G	uc001xer.4	+	2	1116	c.594C>G	c.(592-594)ttC>ttG	p.F198L	C14orf135_uc001xeq.2_Missense_Mutation_p.F198L|C14orf135_uc010apm.3_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	432						integral to membrane		p.V197V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGACTGTATTCTTTGAGAAGC	0.343												
MAP2K1	5604	broad.mit.edu	37	15	66679706	66679706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:66679706delG	uc010bhq.3	+	0	496	c.21delG	c.(19-21)acgfs	p.T7fs		NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	7					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGAAGCCGACGCCCATCCAGC	0.697												
SLC28A1	9154	broad.mit.edu	37	15	85478399	85478399	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:85478399G>A	uc002blg.3	+	13	1559	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SLC28A1_uc010bnb.3_Missense_Mutation_p.V453M|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	453					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGAGACATGGTGGACATCCA	0.592												
MFGE8	4240	broad.mit.edu	37	15	89453040	89453040	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:89453040C>T	uc002bng.4	-	1	301	c.188G>A	c.(187-189)gGc>gAc	p.G63D	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Missense_Mutation_p.G63D|MFGE8_uc010bnn.3_Missense_Mutation_p.G55D|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	63	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGTGGTTGCCCGCGTAGCC	0.572												
APOBR	55911	broad.mit.edu	37	16	28507386	28507386	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:28507386G>A	uc002dqb.2	+	1	1057	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	342	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GATAGCCTCAGGCGGGGAGGC	0.721												
ALDOA	226	broad.mit.edu	37	16	30080984	30080984	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:30080984C>T	uc010veg.2	+	7	1219	c.951C>T	c.(949-951)ccC>ccT	p.P317P	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Silent_p.P263P|ALDOA_uc002dvw.3_Silent_p.P263P|ALDOA_uc002dvz.3_Silent_p.P263P|ALDOA_uc002dwa.4_Silent_p.P263P|ALDOA_uc002dwc.3_Silent_p.P263P	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	263					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGTGCCCCCCGCTGTCACTG	0.562												
KIAA0182	23199	broad.mit.edu	37	16	85701868	85701868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:85701868delC	uc002fix.3	+	13	3327	c.3253delC	c.(3253-3255)cccfs	p.P1085fs	KIAA0182_uc002fiw.3_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.3_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.3_Frame_Shift_Del_p.P265fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	1085							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GCAGCAGGAGCCCCCCACTGC	0.607												
ABR	29	broad.mit.edu	37	17	914060	914060	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:914060G>A	uc002fsd.3	-	19	2255	c.2145C>T	c.(2143-2145)aaC>aaT	p.N715N	ABR_uc002fse.3_Silent_p.N669N|ABR_uc010vqf.2_Silent_p.N166N|ABR_uc010vqg.2_Silent_p.N497N|ABR_uc002fsg.3_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.3_Silent_p.N252N	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	715	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGCGATGGCGTTGATGTCCA	0.637												
MNT	4335	broad.mit.edu	37	17	2290511	2290511	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:2290511G>A	uc002fur.3	-	5	1685	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	478					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGTTGCACCGCAGGGCTGGG	0.667												
KCNJ18	3768	broad.mit.edu	37	17	21319073	21319073	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:21319073C>T	uc021tss.1	+	2	789	c.419C>T	c.(418-420)aCg>aTg	p.T140M	KCNJ18_uc002gyv.1_Missense_Mutation_p.T140M|KCNJ18_uc021tst.1_Missense_Mutation_p.T140M	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	140			T -> M (in TTPP2).			integral to membrane	inward rectifier potassium channel activity										TCCATCGAGACGCAGACCACC	0.667												
COL1A1	1277	broad.mit.edu	37	17	48268238	48268238	+	Silent	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:48268238G>T	uc002iqm.3	-	32	2409	c.2283C>A	c.(2281-2283)ggC>ggA	p.G761G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	761	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G761G(6)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GACCACGGACGCCATCTTTGC	0.587			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta					
GPR142	350383	broad.mit.edu	37	17	72367987	72367987	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:72367987G>A	uc021ucp.1	+	3	637	c.628G>A	c.(628-630)Gcg>Acg	p.A210T	GPR142_uc010wqy.2_Missense_Mutation_p.A213T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	213						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CATCGTGTTCGCGGGCTTCCT	0.652												
SLC25A52	147407	broad.mit.edu	37	18	29339972	29339972	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:29339972C>G	uc002kxa.2	-	0	872	c.653G>C	c.(652-654)gGa>gCa	p.G218A		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	218					transport	integral to membrane|mitochondrial inner membrane											CAATAGACCTCCACCGATAAA	0.458												
SLC14A2	8170	broad.mit.edu	37	18	43205722	43205722	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:43205722C>T	uc002lbe.3	+	2	1041	c.225C>T	c.(223-225)gaC>gaT	p.D75D	SLC14A2_uc002lbb.3_Silent_p.D75D|SLC14A2_uc010dnj.3_Silent_p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	75						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGGAAAGACGACGGGGTGG	0.517												
DUS3L	56931	broad.mit.edu	37	19	5785666	5785666	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:5785666C>T	uc002mdc.3	-	10	1796	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.G325S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	567					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTCTCCACGCCCTGCGTGTCC	0.706												
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:7809880C>T	uc002mht.2	-	4	914	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(2)|p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582												
ARMC6	93436	broad.mit.edu	37	19	19166113	19166113	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:19166113G>T	uc002nld.3	+	6	1495	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	ARMC6_uc002nlc.3_Missense_Mutation_p.A330S|ARMC6_uc010xql.2_Missense_Mutation_p.A262S|ARMC6_uc010xqm.2_Missense_Mutation_p.A355S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	355							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCGAGCCATCGCAGGCAACGA	0.627												
PSG8	440533	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:43259170G>A	uc002ouo.2	-	3	1056	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R320C|PSG8_uc010ein.3_Missense_Mutation_p.R198C|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	320	Ig-like C2-type 2.					extracellular region		p.R320C(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483												
FAM71E1	112703	broad.mit.edu	37	19	50978584	50978584	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:50978584G>A	uc002psh.3	-	2	895	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM71E1_uc002psg.3_Silent_p.F163F|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	179										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCAGTTACCCGAAGAGTTGCA	0.672												
SRBD1	55133	broad.mit.edu	37	2	45773870	45773870	+	Splice_Site	SNP	C	C	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:45773870C>A	uc002rus.3	-	14	1950	c.1874_splice	c.e14+1	p.C625_splice	SRBD1_uc010yoc.2_Splice_Site_p.C144_splice	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	625					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATAGCCTTACCAGTAAACAA	0.378												
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:109087883_109087884insA	uc002tec.3	+	5	2252_2253	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307												
CRYGD	1421	broad.mit.edu	37	2	208986472	208986472	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:208986472G>C	uc002vcn.4	-	2	566	c.450C>G	c.(448-450)gaC>gaG	p.D150E	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.D150E	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	150	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCGCCTATAGTCCCCTGGCA	0.542												
JAG1	182	broad.mit.edu	37	20	10653470	10653470	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:10653470C>T	uc002wnw.2	-	1	782	c.266G>A	c.(265-267)gGg>gAg	p.G89E		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	89					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGGGCCCCCCGGCCGTGAC	0.667									Alagille Syndrome			
MACROD2	140733	broad.mit.edu	37	20	15210608	15210608	+	Silent	SNP	A	A	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:15210608A>T	uc002wou.3	+	5	705	c.441A>T	c.(439-441)ccA>ccT	p.P147P	MACROD2_uc002wot.3_Silent_p.P147P|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	147	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTAGGGCCAATAGCCAGGG	0.353												
C22orf43	51233	broad.mit.edu	37	22	23974205	23974205	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:23974205C>T	uc002zxf.3	-	0	304	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	2										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGTATATTCCCCATGGGGC	0.547												
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:29091840_29091841TG>CA	uc003adu.1	-	10	1188_1189	c.1116_1117CA>TG	c.(1114-1119)tccaag>tcTGag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes				
SF3A1	10291	broad.mit.edu	37	22	30738319	30738319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:30738319C>T	uc003ahl.3	-	5	879	c.747G>A	c.(745-747)tgG>tgA	p.W249*	SF3A1_uc021wnt.1_Nonsense_Mutation_p.W184*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	249					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGAATTTGGCCCATTCCACTC	0.542												
FAM118A	55007	broad.mit.edu	37	22	45723798	45723798	+	Missense_Mutation	SNP	C	C	T	rs140683394		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:45723798C>T	uc003bfz.4	+	4	992	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FAM118A_uc003bga.4_Missense_Mutation_p.R126W|DQ586951_uc021wri.1_5'Flank|DQ586951_uc011aqp.1_5'Flank|DQ586951_uc021wrj.1_5'Flank|DQ586951_uc011aqq.1_5'Flank|FAM118A_uc011aqr.2_5'Flank	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	126						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCAGCACATCCGGAGTCCTGT	0.592												
CCR4	1233	broad.mit.edu	37	3	32995888	32995888	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:32995888T>A	uc003cfg.1	+	1	1142	c.974T>A	c.(973-975)cTt>cAt	p.L325H	CCR4_uc021wuw.1_Missense_Mutation_p.L325H	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	325					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCAGGGGCCTTTTTGTGCTC	0.478												
DCP1A	55802	broad.mit.edu	37	3	53376299	53376299	+	Splice_Site	SNP	C	C	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:53376299C>A	uc021wzi.1	-	3	287	c.177_splice	c.e3-1	p.R59_splice	DCP1A_uc021wzk.1_Splice_Site_p.R59_splice	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGAAGCTGACCTTAGATTTAA	0.294												
CD96	10225	broad.mit.edu	37	3	111356983	111356983	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:111356983G>A	uc003dxw.3	+	12	1663	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CD96_uc003dxx.3_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	498	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTGCCAATGGATCTACGAAA	0.383									Opitz Trigonocephaly syndrome			
HPS3	84343	broad.mit.edu	37	3	148857895	148857895	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:148857895A>C	uc003ewu.1	+	1	462	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Missense_Mutation_p.M1L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	108						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGTATCCGAATGATTGGGCA	0.423									Hermansky-Pudlak syndrome			
CPN2	1370	broad.mit.edu	37	3	194062087	194062087	+	Missense_Mutation	SNP	G	G	A	rs142681810		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:194062087G>A	uc003fts.3	-	1	1435	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CPN2_uc021xix.1_Missense_Mutation_p.R449W	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	449					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGTGGTCCCGGGTGACGGGA	0.647												
TLR1	7096	broad.mit.edu	37	4	38798601	38798601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:38798601G>A	uc003gtl.3	-	3	2126	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TLR1_uc021xnn.1_Nonsense_Mutation_p.Q618*	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	618					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CGCCGGGTCTGGGTCCACTGG	0.522												
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458												
PPA2	27068	broad.mit.edu	37	4	106317427	106317427	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:106317427C>T	uc003hxl.3	-	8	868	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	PPA2_uc003hxn.3_Missense_Mutation_p.C254Y|PPA2_uc003hxo.3_Missense_Mutation_p.C181Y|PPA2_uc003hxp.3_Missense_Mutation_p.C117Y|PPA2_uc003hxq.3_Missense_Mutation_p.C190Y	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCTCCATTACACTTCTTCAT	0.294												
RAPGEF6	96459	broad.mit.edu	37	5	131039794	131039794	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:131039794T>C	uc003kvs.1	-	9	1222	c.1080A>G	c.(1078-1080)gaA>gaG	p.E360E	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E332E|RAPGEF6_uc010jdm.1_Silent_p.E315E|RAPGEF6_uc003kvu.3_Silent_p.E360E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCATGTGGCTTTCAAAGAGAG	0.269												
PCDHGC5	56108	broad.mit.edu	37	5	140763059	140763059	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:140763059G>A	uc003lka.2	+	0	593	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R198Q	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGAGCGGGTGCTGGAC	0.622												
HLA-E	3133	broad.mit.edu	37	6	30458930	30458930	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:30458930C>T	uc011dmh.2	+	2	777	c.750C>T	c.(748-750)caC>caT	p.H250H	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Silent_p.H209H			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CAAAGACACACGTGACTCACC	0.582												
DST	667	broad.mit.edu	37	6	56357035	56357035	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:56357035C>G	uc003pcy.4	-	65	12986	c.12878G>C	c.(12877-12879)aGa>aCa	p.R4293T	DST_uc003pda.4_5'UTR	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6705					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTGGCTCTCTTCCTTGC	0.373												
COL19A1	1310	broad.mit.edu	37	6	70878104	70878104	+	Silent	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:70878104T>A	uc003pfc.1	+	38	2655	c.2538T>A	c.(2536-2538)ccT>ccA	p.P846P		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	846	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCGGTCCTCCTGTAAGTA	0.383												
CEP57L1	285753	broad.mit.edu	37	6	109481832	109481832	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:109481832C>T	uc010kdk.3	+	11	1651	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	CEP57L1_uc003psx.4_Silent_p.D358D|CEP57L1_uc010kdl.3_Silent_p.D358D|CEP57L1_uc003psy.4_Silent_p.D358D	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	358						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAGTCTGTGACGACATAGAAT	0.343												
TBP	6908	broad.mit.edu	37	6	170878836	170878836	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:170878836G>T	uc003qxu.3	+	5	1093	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	TBP_uc011ehf.2_Missense_Mutation_p.G252C|TBP_uc003qxt.3_Missense_Mutation_p.G272C	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	272					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368												
C7orf65	401335	broad.mit.edu	37	7	47698751	47698751	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:47698751G>T	uc010kyp.1	+	2	416	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	127										endometrium(1)|lung(2)	3						ACCCCTGGAAGGATGCTCAGG	0.552												
PPP1R3A	5506	broad.mit.edu	37	7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:113558904C>T	uc010ljy.1	-	0	179	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	50					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATATGTCTTCAGAAGAATCA	0.388												
ANKRD7	56311	broad.mit.edu	37	7	117864828	117864828	+	Translation_Start_Site	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:117864828C>T	uc003vji.3	+	0						NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602												
TBXAS1	6916	broad.mit.edu	37	7	139655361	139655361	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:139655361C>T	uc011kqv.2	+	7	1019	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	TBXAS1_uc003vvh.3_Missense_Mutation_p.R216C|TBXAS1_uc010lne.3_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.2_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.3_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.2_Missense_Mutation_p.R196C|TBXAS1_uc003vvj.3_Missense_Mutation_p.R216C	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	215					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACACTGCAAGCGTTTCTTCGA	0.577												
TACC1	6867	broad.mit.edu	37	8	38677275	38677275	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr8:38677275T>C	uc010lwp.3	+	2	892	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Silent_p.A126A|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Silent_p.A187A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Silent_p.A171A|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	171	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	p.A171V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAAAAGCAGCTCATGGCTGTG	0.532												
KANK1	23189	broad.mit.edu	37	9	732407	732407	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:732407G>T	uc003zgl.1	+	9	3684	c.3035G>T	c.(3034-3036)aGc>aTc	p.S1012I	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.S1012I|KANK1_uc003zgs.1_Missense_Mutation_p.S854I|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1012					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGATTCCAGCTCAGATGAA	0.458												
STXBP1	6812	broad.mit.edu	37	9	130444743	130444743	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:130444743C>T	uc004brk.2	+	17	1803	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	STXBP1_uc004brl.2_Missense_Mutation_p.R536C	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	536					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAGTGGCCCCCGCCTCATCAT	0.562