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
GJB3	2707	broad.mit.edu	37	1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:35250842G>A	uc001bxz.4	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	160					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R160H(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552												
C8B	732	broad.mit.edu	37	1	57395177	57395177	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:57395177C>T	uc001cyp.3	-	11	1743	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	C8B_uc010oon.2_Missense_Mutation_p.G497E|C8B_uc010ooo.2_Missense_Mutation_p.G507E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	559	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACGTCTTCCAGAGCATGA	0.448												
HOOK1	51361	broad.mit.edu	37	1	60294482	60294482	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:60294482A>T	uc009wad.3	+	3	282	c.180A>T	c.(178-180)ttA>ttT	p.L60F	HOOK1_uc001czo.3_Missense_Mutation_p.L60F|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L18F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	60	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATCTTGGTTAAGCCGAATTA	0.348												
COL11A1	1301	broad.mit.edu	37	1	103453212	103453212	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:103453212G>A	uc001dum.3	-	29	2833	c.2515C>T	c.(2515-2517)Cct>Tct	p.P839S	COL11A1_uc001duk.3_Silent_p.V17V|COL11A1_uc001dul.3_Missense_Mutation_p.P827S|COL11A1_uc001dun.3_Missense_Mutation_p.P788S|COL11A1_uc009weh.3_Missense_Mutation_p.P711S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	827	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P839S(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGACCTGAAGGACCTGGGTCT	0.453												
PYHIN1	149628	broad.mit.edu	37	1	158912123	158912123	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:158912123G>A	uc001ftb.3	+	4	1186	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PYHIN1_uc001ftc.3_Silent_p.P303P|PYHIN1_uc001ftd.3_Silent_p.P312P|PYHIN1_uc001fte.3_Silent_p.P303P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	312	HIN-200.				cell cycle	nuclear speck		p.P312L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATTCCGAAGATCAATA	0.378												
RASAL2	9462	broad.mit.edu	37	1	178425898	178425898	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:178425898G>T	uc001glq.3	+	12	3018	c.2254G>T	c.(2254-2256)Gat>Tat	p.D752Y	RASAL2_uc001glr.3_Missense_Mutation_p.D611Y|RASAL2_uc009wxc.3_Missense_Mutation_p.D125Y	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	611					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTTCTTGCTGATATTACCAA	0.468												
STX6	10228	broad.mit.edu	37	1	180971810	180971810	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:180971810A>G	uc021pfr.1	-	2	469	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	78					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTTAAATTTTCTAGGA	0.353												
CENPF	1063	broad.mit.edu	37	1	214787153	214787153	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:214787153A>G	uc001hkm.3	+	1	230	c.56A>G	c.(55-57)aAa>aGa	p.K19R		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	19	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.K19R(2)|p.Q18*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTCTTCAGAAAATTCAAGAG	0.428												
OBSCN	84033	broad.mit.edu	37	1	228504460	228504460	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:228504460G>A	uc009xez.1	+	50	13380	c.13336G>A	c.(13336-13338)Ggc>Agc	p.G4446S	OBSCN_uc001hsn.3_Missense_Mutation_p.G4446S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4446	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGGCCGGCGCACAGGC	0.672												
OR2L13	284521	broad.mit.edu	37	1	248263034	248263034	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:248263034C>T	uc001ids.3	+	2	694	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_uc021pmc.1_Silent_p.Y119Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.Y119Y(3)|p.A118E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGGCCTACGACCGTTATT	0.512												
FAM208B	54906	broad.mit.edu	37	10	5791482	5791482	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:5791482C>T	uc001iij.3	+	14	6723	c.6098C>T	c.(6097-6099)cCt>cTt	p.P2033L	FAM208B_uc001iik.3_Missense_Mutation_p.P877L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	2033																	CATCCTGCACCTAGGAGCAGA	0.547												
ARMC3	219681	broad.mit.edu	37	10	23250972	23250972	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:23250972G>A	uc001irm.4	+	6	780	c.697G>A	c.(697-699)Gga>Aga	p.G233R	ARMC3_uc010qcv.2_Missense_Mutation_p.G233R|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	233							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACAATCAAGGATTGGACCA	0.358												
ZNF248	57209	broad.mit.edu	37	10	38126948	38126948	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:38126948A>G	uc001izd.1	-	3	606	c.107T>C	c.(106-108)gTg>gCg	p.V36A	ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCAGGATCACATCTCTGTA	0.413												
PTEN	5728	broad.mit.edu	37	10	89692907	89692907	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:89692907A>G	uc001kfb.3	+	4	1423	c.391A>G	c.(391-393)Act>Gct	p.T131A	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	131	Phosphatase 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.R130G(110)|p.R130*(72)|p.R130Q(68)|p.0?(37)|p.R130fs*4(15)|p.R130L(13)|p.R130P(7)|p.K128_R130del(7)|p.T131fs*3(6)|p.?(5)|p.R55fs*1(5)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.T131A(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.T131P(2)|p.T131I(1)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.R130?(1)|p.T131N(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)		AAAGGGACGAACTGGTGTAAT	0.398		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)		
PHRF1	57661	broad.mit.edu	37	11	608380	608380	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:608380A>T	uc001lqe.3	+	13	3055	c.2924A>T	c.(2923-2925)gAc>gTc	p.D975V	PHRF1_uc010qwc.2_Missense_Mutation_p.D974V|PHRF1_uc010qwd.2_Missense_Mutation_p.D973V|PHRF1_uc010qwe.2_Missense_Mutation_p.D971V|PHRF1_uc009ybz.1_Missense_Mutation_p.D765V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	975							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGCCCGGACGTGCTGCAG	0.657												
OR51D1	390038	broad.mit.edu	37	11	4661587	4661587	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:4661587C>T	uc010qyk.2	+	0	643	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCACACACTCCTTCTGTC	0.483												
PICALM	8301	broad.mit.edu	37	11	85733503	85733503	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:85733503A>T	uc001pbm.3	-	3	676	c.359T>A	c.(358-360)aTg>aAg	p.M120K	PICALM_uc001pbl.3_Missense_Mutation_p.M120K|PICALM_uc001pbn.3_Missense_Mutation_p.M120K|PICALM_uc010rtl.2_Missense_Mutation_p.M69K	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	120	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAATGTAGACATGTCATATCC	0.303			T	"""MLLT10, MLL"""	"""TALL, AML, """							
ANO2	57101	broad.mit.edu	37	12	5842030	5842030	+	Splice_Site	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:5842030A>G	uc001qnm.2	-	14	1506	c.1434_splice	c.e14+1	p.Q478_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	483						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						TGAAAACCAAACCTGGGCACG	0.483												
GPR162	10536	broad.mit.edu	37	12	6946911	6946911	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:6946911G>A	uc001qra.1	+	12	1758	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	GPR162_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAAGAGCAGCGCATGGACCTG	0.652												
NOS1	4842	broad.mit.edu	37	12	117768967	117768967	+	Translation_Start_Site	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:117768967C>T	uc001twn.2	-	1					NOS1_uc001twm.2_5'UTR	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.						multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAGGCTACACGGAGAGCAGG	0.582												
UBC	7316	broad.mit.edu	37	12	125397201	125397201	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:125397201G>T	uc001ugs.4	-	1	1575	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.L373M|UBC_uc001ugu.1_Missense_Mutation_p.L373M|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L373M	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	373	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGGAGCACCAGGTGCAAGGTG	0.532												
OCA2	4948	broad.mit.edu	37	15	28202861	28202861	+	Missense_Mutation	SNP	C	C	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:28202861C>G	uc001zbh.4	-	15	1767	c.1657G>C	c.(1657-1659)Gtc>Ctc	p.V553L	OCA2_uc010ayv.3_Missense_Mutation_p.V529L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	553					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.V553I(2)|p.H552H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous Albinism			
TRPM1	4308	broad.mit.edu	37	15	31342763	31342763	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:31342763G>A	uc021sia.1	-	10	1651	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	TRPM1_uc010azy.3_Missense_Mutation_p.P314L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P429L|TRPM1_uc001zfm.3_Missense_Mutation_p.P407L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	407					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTGTCCGTCGGGGGTGCCAG	0.557												
EXD1	161829	broad.mit.edu	37	15	41483752	41483752	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:41483752G>A	uc010ucv.2	-	9	1024	c.752C>T	c.(751-753)aCg>aTg	p.T251M	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.T193M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	193					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATAGCCACCCGTTTCCATGGA	0.383												
SPG11	80208	broad.mit.edu	37	15	44876437	44876437	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:44876437T>C	uc001ztx.3	-	29	5472	c.5441A>G	c.(5440-5442)aAt>aGt	p.N1814S	SPG11_uc010bdw.3_Missense_Mutation_p.N103S|SPG11_uc010ueh.2_Missense_Mutation_p.N1814S|SPG11_uc010uei.2_Missense_Mutation_p.N1814S|SPG11_uc001zty.1_Missense_Mutation_p.N543S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1814					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCCTCCTGATTTCTTCCAAG	0.512												
SEMA6D	80031	broad.mit.edu	37	15	48056239	48056239	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:48056239G>A	uc010bek.3	+	9	1300	c.940G>A	c.(940-942)Ggg>Agg	p.G314R	SEMA6D_uc001zvw.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.3_Missense_Mutation_p.G314R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	314	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACTGTGGTCGGGGTGTTTAC	0.483												
ALDH1A2	8854	broad.mit.edu	37	15	58253017	58253017	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:58253017C>T	uc002aex.3	-	11	1708	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	ALDH1A2_uc010ugv.2_Missense_Mutation_p.A458T|ALDH1A2_uc002aey.3_Missense_Mutation_p.A441T|ALDH1A2_uc010ugw.2_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.3_Missense_Mutation_p.A383T	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	479					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGCTCTGGGCATTTAAGGCA	0.408												
CLDN6	9074	broad.mit.edu	37	16	3065604	3065604	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:3065604G>A	uc021tbb.1	-	0	419	c.419C>T	c.(418-420)gCg>gTg	p.A140V	CLDN6_uc002csu.4_Missense_Mutation_p.A140V	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	140					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GATGGCATGCGCCGTCCAGCA	0.622												
SCNN1B	6338	broad.mit.edu	37	16	23360038	23360038	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:23360038C>T	uc002dln.3	+	1	294	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	40					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGGCCCCAAGCGCATCATCTG	0.622												
ITGAD	3681	broad.mit.edu	37	16	31422517	31422517	+	Missense_Mutation	SNP	G	G	A	rs147338780		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:31422517G>A	uc010cap.1	+	12	1526	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	ITGAD_uc002ebv.1_Missense_Mutation_p.V493M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	493					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGGTGTCCGTGTGTCCCTT	0.632												
WDR59	79726	broad.mit.edu	37	16	74976699	74976699	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:74976699A>T	uc002fdh.1	-	6	573	c.471T>A	c.(469-471)aaT>aaA	p.N157K	WDR59_uc002fdi.3_Missense_Mutation_p.N157K|WDR59_uc021tli.1_Missense_Mutation_p.N136K	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	157										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTTTTTTTATTCCATTTGA	0.502												
KCNG4	93107	broad.mit.edu	37	16	84270708	84270708	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:84270708C>T	uc010voc.2	-	1	505	c.384G>A	c.(382-384)gcG>gcA	p.A128A	KCNG4_uc002fhu.1_Silent_p.A128A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	128						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCTTCCCGGCCGCCAGGAAGC	0.637												
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACCACCACACTATGTCGA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MGAT5B	146664	broad.mit.edu	37	17	74936837	74936837	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:74936837G>A	uc002jti.3	+	12	1885	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	MGAT5B_uc002jth.3_Silent_p.A583A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	585						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCCTACGCGGAGAACTTCA	0.552												
PAPL	390928	broad.mit.edu	37	19	39597641	39597641	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:39597641G>A	uc002oki.3	+	11	1442	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	390						extracellular region	acid phosphatase activity|metal ion binding										CTGGAGTGCCGTGCGTGTGAA	0.652												
PSG3	5669	broad.mit.edu	37	19	43376198	43376198	+	Splice_Site	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:43376198C>A	uc002ovd.1	-	3	569	c.431_splice	c.e3-1	p.L144_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Splice_Site_p.L144_splice|PSG3_uc002oun.3_Splice_Site|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Splice_Site_p.L144_splice|PSG3_uc002ovb.3_Splice_Site_p.L144_splice	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	144	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGAGTCTCCACTGTGCAGAAA	0.527												
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:52942411G>A	uc002pzk.3	+	3	1804	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.A566A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443												
IL1RN	3557	broad.mit.edu	37	2	113890330	113890330	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:113890330C>A	uc002tjb.3	+	3	480	c.416C>A	c.(415-417)gCc>gAc	p.A139D	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.A142D|IL1RN_uc002tiy.3_Missense_Mutation_p.A105D|IL1RN_uc002tja.3_Missense_Mutation_p.A121D	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	139					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TTTGAGTCTGCCGCCTGCCCC	0.572									Lichen Sclerosis et Atrophicus, Familial Clustering of			
PPIG	9360	broad.mit.edu	37	2	170494029	170494029	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:170494029G>C	uc002uez.3	+	13	2481	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	PPIG_uc010fpx.3_Missense_Mutation_p.G739A|PPIG_uc010fpy.3_Missense_Mutation_p.G747A|PPIG_uc002ufb.3_Missense_Mutation_p.G754A|PPIG_uc002ufd.3_Missense_Mutation_p.G751A	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	754					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAAAAGCGGATGAGTGAGT	0.313												
TTN	7273	broad.mit.edu	37	2	179412263	179412263	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:179412263T>C	uc021vsy.1	-	287	86611	c.86386A>G	c.(86386-86388)Aag>Gag	p.K28796E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22491E|TTN_uc021vta.1_Missense_Mutation_p.K22424E|TTN_uc021vtb.1_Missense_Mutation_p.K22299E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29723	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGCGCTTGACACTGGAA	0.413												
COL6A3	1293	broad.mit.edu	37	2	238275663	238275663	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:238275663G>A	uc002vwl.2	-	10	5452	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1723	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.L1723I(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGCTCAAGGCCCACCTTA	0.547												
BTBD3	22903	broad.mit.edu	37	20	11900455	11900455	+	Silent	SNP	C	C	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:11900455C>G	uc002wnz.3	+	2	866	c.507C>G	c.(505-507)gtC>gtG	p.V169V	BTBD3_uc002wny.3_Silent_p.V108V|BTBD3_uc002woa.3_Silent_p.V108V|BTBD3_uc010zrf.2_Silent_p.V18V|BTBD3_uc010zrg.2_Silent_p.V18V|BTBD3_uc010zrh.2_Silent_p.V18V	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	169	BTB.									breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACCAGATGTCGAACCTGCTG	0.418												
DEFB118	117285	broad.mit.edu	37	20	29960755	29960755	+	Nonsense_Mutation	SNP	C	C	T	rs34328728		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:29960755C>T	uc002wvr.3	+	1	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	52					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438												
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""							
DLGAP4	22839	broad.mit.edu	37	20	35075140	35075140	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:35075140G>A	uc002xff.3	+	6	1883	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	DLGAP4_uc010zvp.2_Missense_Mutation_p.C483Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	483					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGGCGGCCTGCGAGTCAGCC	0.647												
KRTAP19-3	337970	broad.mit.edu	37	21	31864264	31864264	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr21:31864264G>A	uc002yog.1	-	0	12	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	4						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGTAGCTGCCGTAGTAGCTCA	0.547												
TPST2	8459	broad.mit.edu	37	22	26937269	26937269	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr22:26937269G>A	uc003acw.3	-	2	669	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	TPST2_uc003acx.3_Missense_Mutation_p.R110C|TPST2_uc011akf.1_Missense_Mutation_p.R110C	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	110					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CAGGCCTGGCGCATGGCCAGC	0.697												
ITPR1	3708	broad.mit.edu	37	3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:4816936G>A	uc003bqc.3	+	45	6295	c.5945G>A	c.(5944-5946)cGt>cAt	p.R1982H	ITPR1_uc021wsi.1_Missense_Mutation_p.R1949H|ITPR1_uc021wsj.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1997					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.L1982L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTTCCTCCGTTGCCAAAAT	0.483												
FGD5	152273	broad.mit.edu	37	3	14905722	14905722	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:14905722G>A	uc003bzc.3	+	1	2723	c.2613G>A	c.(2611-2613)tcG>tcA	p.S871S	FGD5_uc011avk.2_Silent_p.S871S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	871					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAGAAGCTCGGAGGAGGAGG	0.597												
CTBP1	1487	broad.mit.edu	37	4	1209830	1209830	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:1209830G>A	uc003gcw.3	-	4	876	c.711C>T	c.(709-711)tgC>tgT	p.C237C	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcv.1_Silent_p.C237C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	237					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGTTGAGGCCGCAGTGCAGGG	0.637												
HGFAC	3083	broad.mit.edu	37	4	3449235	3449235	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3449235G>A	uc003ghc.3	+	10	1375	c.1372G>A	c.(1372-1374)Gtc>Atc	p.V458I	HGFAC_uc010icw.3_Missense_Mutation_p.V465I	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	458	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGACAGCGTCTCCGTGGT	0.667												
ADRA2C	152	broad.mit.edu	37	4	3769412	3769412	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3769412G>A	uc003ghm.3	+	0	1117	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	360					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	p.R360Q(2)|p.R360L(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGTCGCGCCGGCGCCGGGCG	0.746												
AFM	173	broad.mit.edu	37	4	74354406	74354406	+	Missense_Mutation	SNP	T	T	C	rs139224995	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:74354406T>C	uc003hhb.3	+	6	804	c.773T>C	c.(772-774)cTt>cCt	p.L258P		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	258	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTATTTCTCTTGTAGAAGAT	0.353												
FAT4	79633	broad.mit.edu	37	4	126373451	126373451	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:126373451G>A	uc003ifj.4	+	8	11280	c.11280G>A	c.(11278-11280)acG>acA	p.T3760T	FAT4_uc011cgp.2_Silent_p.T2058T|FAT4_uc003ifi.1_Silent_p.T1238T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3760					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						ACAATAGAACGTTTCTTTTGG	0.453												
ENPP6	133121	broad.mit.edu	37	4	185074883	185074883	+	Missense_Mutation	SNP	C	C	T	rs142786439		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:185074883C>T	uc003iwc.3	-	1	387	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	82					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.R82H(2)|p.R82C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCACAATGGCGGCCTATGTC	0.453												
PLEKHG4B	153478	broad.mit.edu	37	5	163558	163558	+	Missense_Mutation	SNP	C	C	T	rs148435989		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:163558C>T	uc003jak.2	+	10	2353	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAAGCTCCCGCTGTGGCAG	0.652												
IPO11	51194	broad.mit.edu	37	5	61887491	61887491	+	Silent	SNP	T	T	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:61887491T>A	uc011cqr.2	+	27	2920	c.2790T>A	c.(2788-2790)acT>acA	p.T930T	IPO11_uc003jtc.3_Silent_p.T890T|IPO11_uc003jte.3_Silent_p.T9T	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	890						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAACAGGAACTTATAAAGAGT	0.338												
SLC27A6	28965	broad.mit.edu	37	5	128301930	128301930	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:128301930G>A	uc003kuy.3	+	1	496	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	SLC27A6_uc003kuz.3_Missense_Mutation_p.V34M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	34					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTCTGGTTCGTGTTGAAGGT	0.463												
PCDHGC5	56114	broad.mit.edu	37	5	140712400	140712400	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:140712400C>T	uc003lji.2	+	0	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R717W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	718					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C716*(1)		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)			GCACAGGCTGCGGCGCTGGCA	0.657												
FAM153C	653316	broad.mit.edu	37	5	177466410	177466410	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:177466410G>A	uc011dge.2	+	5	338	c.131G>A	c.(130-132)cGt>cAt	p.R44H						Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCACAACGTGGTACGTAT	0.478												
ZC3H12D	340152	broad.mit.edu	37	6	149795611	149795611	+	Silent	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr6:149795611C>A	uc010kid.3	-	1	339	c.69G>T	c.(67-69)gtG>gtT	p.V23V	ZC3H12D_uc003qmn.1_Silent_p.V23V	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	23						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTGCCCAACACCCGGAGCA	0.677												
CYCS	54205	broad.mit.edu	37	7	25163649	25163649	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:25163649C>T	uc003sxl.3	-	1	260	c.90G>A	c.(88-90)ggG>ggA	p.G30G		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	30					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443												
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:26225102G>A	uc003sxq.3	+	3	2056	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	595					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.C595Y(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368												
JHDM1D	80853	broad.mit.edu	37	7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:139824534C>T	uc003vvm.3	-	6	942	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	313	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358												
OR2A2	442361	broad.mit.edu	37	7	143807248	143807248	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:143807248C>T	uc011ktz.2	+	0	573	c.573C>T	c.(571-573)acC>acT	p.T191T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTGCTGACACCTGGGTTAACC	0.512												
PLAG1	5324	broad.mit.edu	37	8	57079222	57079222	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:57079222C>T	uc003xsq.4	-	2	1534	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	PLAG1_uc003xsr.4_Missense_Mutation_p.M361I|PLAG1_uc010lyi.3_Missense_Mutation_p.M361I|PLAG1_uc010lyj.3_Missense_Mutation_p.M279I|PLAG1_uc022aur.1_Missense_Mutation_p.M279I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M361I(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGTAACTCCATCAGGTAAC	0.438			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma							
MATN2	4147	broad.mit.edu	37	8	99044505	99044505	+	Silent	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:99044505T>C	uc003yic.3	+	15	2772	c.2541T>C	c.(2539-2541)tcT>tcC	p.S847S	MATN2_uc010mbh.1_Silent_p.S806S|MATN2_uc003yid.3_Silent_p.S847S|MATN2_uc003yie.1_Silent_p.S847S|MATN2_uc010mbi.1_Silent_p.S680S|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	847						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGGACTCTCCAGCAGGGG	0.473												
P2RY8	286530	broad.mit.edu	37	X	1584470	1584470	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:1584470C>T	uc022brv.1	-	0	982	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A328T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGTCCTGGCGGAGAAGAGG	0.682			T	CRLF2	"""B-ALL, Downs associated ALL"""							
GEMIN8	54960	broad.mit.edu	37	X	14027285	14027285	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:14027285C>T	uc004cwb.3	-	4	819	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	GEMIN8_uc004cwc.3_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.3_Missense_Mutation_p.R159Q	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	159					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTGCTGCTGCCGCCCTGAGAA	0.582												
KLHL34	257240	broad.mit.edu	37	X	21674666	21674666	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:21674666G>A	uc004czz.1	-	0	1783	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	414										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGGCCCGCGCTTCCCGCAT	0.721												
USP11	8237	broad.mit.edu	37	X	47102906	47102906	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47102906C>T	uc004dhp.3	+	12	1824	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	USP11_uc004dhq.3_Silent_p.Y335Y	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	608					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACTCCTACTACGGCCTGATGC	0.592												
ZNF81	347344	broad.mit.edu	37	X	47775654	47775654	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47775654G>A	uc022bvq.1	+	4	1858	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ZNF81_uc010nhy.2_Missense_Mutation_p.D537N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	537						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGCCTTCACCGACAGGTCAAA	0.443												
SSX9	280660	broad.mit.edu	37	X	48159131	48159131	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:48159131G>A	uc022bvu.1	-	4	404	c.402C>T	c.(400-402)aaC>aaT	p.N134N						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						GTTTCCCATCGTTCTGTAAGC	0.468												
ERCC6L	54821	broad.mit.edu	37	X	71424939	71424939	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:71424939C>T	uc004eaq.1	-	1	3775	c.3678G>A	c.(3676-3678)gcG>gcA	p.A1226A	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1226					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTATGTCAAGCGCTTTAACTA	0.363												
TBX22	50945	broad.mit.edu	37	X	79286010	79286010	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:79286010C>T	uc010nmg.1	+	8	1097	c.963C>T	c.(961-963)ggC>ggT	p.G321G	TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	321					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGCAGTGGCTCATCTCCAG	0.433												
H2BFWT	158983	broad.mit.edu	37	X	103267902	103267902	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:103267902G>A	uc004elr.3	-	0	355	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	111					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637												
FAM70A	55026	broad.mit.edu	37	X	119394752	119394752	+	Silent	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:119394752A>G	uc004eso.4	-	9	1250	c.1023T>C	c.(1021-1023)ttT>ttC	p.F341F	FAM70A_uc004esp.4_Silent_p.F317F|FAM70A_uc010nqo.3_Silent_p.F233F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	341	Pro-rich.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GTGGCTTTTCAAAAGGTGGAT	0.507												
FAM45A	55855	broad.mit.edu	37	X	129629140	129629140	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:129629140C>T	uc010nrh.3	+	0	226	c.8C>T	c.(7-9)gCg>gTg	p.A3V	BC043223_uc004evu.3_Non-coding_Transcript	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	3								p.A3E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGATGGCTGCGGCCGAGTTG	0.542												
F9	2158	broad.mit.edu	37	X	138623341	138623341	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:138623341T>G	uc004fas.1	+	3	413	c.384T>G	c.(382-384)tgT>tgG	p.C128W	F9_uc004fat.1_Intron	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	128	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAAAGAACTGTGAATTAGGTA	0.348												
GABRA3	2556	broad.mit.edu	37	X	151336828	151336828	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:151336828T>A	uc010ntk.1	-	9	1591	c.1351A>T	c.(1351-1353)Agt>Tgt	p.S451C		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	451					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGCTGACACTGTTGTAGGTC	0.527												
CTAG2	30848	broad.mit.edu	37	X	153880614	153880614	+	Silent	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:153880614T>C	uc004fmi.2	-	1	625	c.561A>G	c.(559-561)ccA>ccG	p.P187P	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	187	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCCTCGGGTGGCGGCGGGC	0.602												
F8	2157	broad.mit.edu	37	X	154156957	154156957	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:154156957T>G	uc004fmt.3	-	13	5279	c.5108A>C	c.(5107-5109)gAa>gCa	p.E1703A		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1703					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTGATTTTCATCCTCATC	0.408