Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	uc001aft.2	+	1	1007	c.12C>T	c.(10-12)GAC>GAT	p.D4D		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642000													4	18					0	0	0.021553	0	0
OBSCN	84033	broad.mit.edu	37	1	228529180	228529180	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	uc009xez.1	+	74	17943	c.17899C>T	c.(17899-17901)CGC>TGC	p.R5967C	OBSCN_uc001hsn.2_Missense_Mutation_p.R5967C|OBSCN_uc001hsr.1_Missense_Mutation_p.R596C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5967	PH.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGGGATGACCGCGCCTTCGA	0.637000													12	21					0	0	0.049695	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:51093329C>T	uc001jif.2	-	8	2011	c.1750G>A	c.(1750-1752)GCA>ACA	p.A584T	PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			ovary(2)	2				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	62					0	0	0.115264	0	0
NEURL	9148	broad.mit.edu	37	10	105349295	105349295	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:105349295G>A	uc001kxh.2	+	5	1774	c.1364G>A	c.(1363-1365)GGT>GAT	p.G455D	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	455					nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCGAGCGGGGTATCCCATCA	0.652000													11	112					0	0	0.105934	0	0
NRAP	4892	broad.mit.edu	37	10	115380449	115380449	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	uc001laj.2	-	25	2952	c.2788G>A	c.(2788-2790)GTG>ATG	p.V930M	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.V895M|NRAP_uc001lal.3_Missense_Mutation_p.V930M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	930	Nebulin 23.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCACTTCACATCTGCCCTG	0.478000													28	165					0	0	0.064281	0	0
DMBT1	1755	broad.mit.edu	37	10	124389482	124389482	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:124389482G>A	uc001lgk.1	+	44	5514	c.5408G>A	c.(5407-5409)CGC>CAC	p.R1803H	DMBT1_uc001lgl.1_Missense_Mutation_p.R1793H|DMBT1_uc001lgm.1_Missense_Mutation_p.R1175H|DMBT1_uc009xzz.1_Missense_Mutation_p.R1803H|DMBT1_uc010qtx.1_Missense_Mutation_p.R523H|DMBT1_uc009yab.1_Missense_Mutation_p.R506H|DMBT1_uc009yac.1_Missense_Mutation_p.R97H	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1803	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGTTATCGCATAAACCTG	0.473000													5	142					0	0	0.038147	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628952	1628952	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:1628952A>T	uc001ltw.1	-	1	742	c.664T>A	c.(664-666)TGC>AGC	p.C222S		NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	222	11 X 4 AA repeats of C-C-X-P.					keratin filament				ovary(2)	2		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGGAGCAGGGCTTgcag	0.313000													6	386					0	0	0.029380	0	0
MPEG1	219972	broad.mit.edu	37	11	58979065	58979065	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:58979065A>G	uc001nnu.3	-	1	1430	c.1274T>C	c.(1273-1275)ATC>ACC	p.I425T		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	425	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				CTCCTCGTGGATCTGGGATAA	0.537000													3	97					0	0	0.115264	0	0
PLAC1L	219990	broad.mit.edu	37	11	59810975	59810975	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:59810975T>A	uc001nol.2	+	2	283	c.98T>A	c.(97-99)GTC>GAC	p.V33D		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	33				V -> A (in Ref. 1; BAC04191).		extracellular region				ovary(2)|skin(1)	3						TGGTTGATGGTCTCAGTTATC	0.393000													9	41					0	0	0.069234	0	0
AHNAK	79026	broad.mit.edu	37	11	62290017	62290017	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:62290017T>C	uc001ntl.2	-	5	12172	c.11872A>G	c.(11872-11874)AAG>GAG	p.K3958E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3958					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTCAGCCTTGGGCAGGTTC	0.498000													6	412					0	0	0.047766	0	0
SHANK2	22941	broad.mit.edu	37	11	70333471	70333471	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:70333471T>C	uc001oqc.2	-	21	3005	c.2927A>G	c.(2926-2928)AAC>AGC	p.N976S	SHANK2_uc010rqn.1_Missense_Mutation_p.N388S|SHANK2_uc001opz.2_Missense_Mutation_p.N381S|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	597					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCGGAAGTTGGCTTGCGG	0.592000													5	170					0	0	0.021553	0	0
NUMA1	4926	broad.mit.edu	37	11	71726290	71726290	+	Silent	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:71726290T>C	uc001orl.1	-	15	2431	c.2259A>G	c.(2257-2259)GAA>GAG	p.E753E	NUMA1_uc009ysw.1_Silent_p.E316E|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.E753E|NUMA1_uc001orn.2_Silent_p.E316E|NUMA1_uc009ysx.1_Silent_p.E753E|NUMA1_uc001oro.1_Silent_p.E753E	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	753	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GCTCCTTTCGTTCCCGCTTAT	0.612000			T	RARA	APL								3	94					0	0	0.009096	0	0
EXPH5	23086	broad.mit.edu	37	11	108380864	108380864	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	uc001pkk.2	-	6	5481	c.5370C>A	c.(5368-5370)CAC>CAA	p.H1790Q	EXPH5_uc010rvy.1_Missense_Mutation_p.H1602Q|EXPH5_uc010rvz.1_Missense_Mutation_p.H1634Q|EXPH5_uc010rwa.1_Missense_Mutation_p.H1714Q	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1790					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACGATAGAGGTGTGGCTCAG	0.463000													13	123					2.48551e-13	2.62835e-13	0.033300	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120355176	120355176	+	Silent	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	uc001pxl.1	+	40	4591	c.4584C>T	c.(4582-4584)TGC>TGT	p.C1528C	ARHGEF12_uc009zau.1_Silent_p.C1425C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCATTCTTTGCCAAAGGCTGG	0.378000			T	MLL	AML								5	92					0	0	0.029380	0	0
PYROXD1	79912	broad.mit.edu	37	12	21615672	21615672	+	Splice_Site	SNP	A	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	uc001rew.2	+	10	1121	c.994_splice	c.e10-2	p.F332_splice	PYROXD1_uc009ziq.2_Splice_Site_p.F73_splice|PYROXD1_uc009zir.2_Splice_Site_p.F38_splice	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase								oxidoreductase activity			ovary(1)	1						AATGTTGTTTAGTTTGATCTA	0.373000													20	70					0	0	0.099896	0	0
KIF21A	55605	broad.mit.edu	37	12	39761740	39761740	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	uc001rly.2	-	4	691	c.545C>G	c.(544-546)ACT>AGT	p.T182S	KIF21A_uc001rlx.2_Missense_Mutation_p.T182S|KIF21A_uc001rlz.2_Missense_Mutation_p.T182S|KIF21A_uc010skl.1_Missense_Mutation_p.T182S|KIF21A_uc001rma.1_Missense_Mutation_p.T182S	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				AATTCCTCCAGTTGAATCTTC	0.313000													17	171					0	0	0.055883	0	0
RILPL1	353116	broad.mit.edu	37	12	123983204	123983204	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	uc001ufe.2	-	4	924	c.688G>A	c.(688-690)GAG>AAG	p.E230K	RILPL1_uc001ufd.2_Missense_Mutation_p.E79K|RILPL1_uc010tas.1_Missense_Mutation_p.E230K	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230	Potential.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGTCTGCCTCCAGCTCCACC	0.627000													34	141					0	0	0.139131	0	0
FUT8	2530	broad.mit.edu	37	14	66028460	66028460	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:66028460T>A	uc001xin.2	+	3	1376	c.179T>A	c.(178-180)TTG>TAG	p.L60*	FUT8_uc001xio.2_Nonsense_Mutation_p.L60*|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.L60*|FUT8_uc001xiq.2_Intron	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	60	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AATGAAGACTTGAGGCGAATG	0.428000													3	48					0	0	0.009096	0	0
KCNK13	56659	broad.mit.edu	37	14	90650849	90650849	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	uc001xye.1	+	2	1171	c.729G>A	c.(727-729)CTG>CTA	p.L243L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532000													19	33					0	0	0.076483	0	0
DMXL2	23312	broad.mit.edu	37	15	51766595	51766595	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	uc002abf.2	-	28	7381	c.7156G>A	c.(7156-7158)GGA>AGA	p.G2386R	DMXL2_uc002abd.2_Missense_Mutation_p.G457R|DMXL2_uc010ufy.1_Missense_Mutation_p.G2387R|DMXL2_uc010bfa.2_Missense_Mutation_p.G1750R	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ACACCGCCTCCAAAAACAGCA	0.368000													8	87					0	0	0.047766	0	0
TLN2	83660	broad.mit.edu	37	15	63042617	63042617	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:63042617T>C	uc002alb.3	+	31	4136	c.4136T>C	c.(4135-4137)TTG>TCG	p.L1379S	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1379					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AAGGGGATGTTGGACAATCCT	0.403000													3	127					0	0	0.009096	0	0
MTFMT	123263	broad.mit.edu	37	15	65312542	65312542	+	Silent	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	uc002aof.3	-	5	740	c.714G>A	c.(712-714)GCG>GCA	p.A238A		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413000													4	24					0	0	0.029380	0	0
C16orf73	254528	broad.mit.edu	37	16	1889339	1889339	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:1889339G>A	uc002cne.2	-	12	1253	c.1135C>T	c.(1135-1137)CTG>TTG	p.L379L	FAHD1_uc002cnd.2_3'UTR|FAHD1_uc010brz.2_3'UTR|C16orf73_uc010uvq.1_Silent_p.L379L|C16orf73_uc010uvr.1_Silent_p.L172L	NM_152764	NP_689977	Q8N635	CP073_HUMAN	hypothetical protein LOC254528 isoform 2	379					meiosis	cytoplasm					0						AGATCAATCAGCACATGGAAA	0.423000													3	44					0	0	0.115264	0	0
SRCAP	10847	broad.mit.edu	37	16	30732740	30732740	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	uc002dze.1	+	21	3869	c.3484C>G	c.(3484-3486)CCG>GCG	p.P1162A	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.P1019A|SRCAP_uc010bzz.1_Missense_Mutation_p.P732A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1162	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGTGCCAGCTCCGACTCCTGC	0.612000													32	80					0	0	0.098360	0	0
SRCAP	10847	broad.mit.edu	37	16	30734516	30734516	+	Silent	SNP	C	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	uc002dze.1	+	24	4510	c.4125C>G	c.(4123-4125)CTC>CTG	p.L1375L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L1170L|SRCAP_uc010bzz.1_Silent_p.L945L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1375	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602000													70	164					0	0	0.139131	0	0
C16orf46	123775	broad.mit.edu	37	16	81094882	81094882	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	uc002fgc.3	-	4	1331	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T	C16orf46_uc010chf.2_Missense_Mutation_p.A358T|C16orf46_uc010vno.1_Missense_Mutation_p.A85T	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	358											0						TCCTGCTTGGCCTTTGGGAGA	0.498000													12	113					0	0	0.038395	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:89351844T>C	uc002fmx.1	-	9	1567	c.1106A>G	c.(1105-1107)AAG>AGG	p.K369R	ANKRD11_uc002fmy.1_Missense_Mutation_p.K369R|ANKRD11_uc002fnc.1_Missense_Mutation_p.K369R|ANKRD11_uc002fnb.1_Missense_Mutation_p.K326R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453000													3	141					0	0	0.014758	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381927	6381927	+	Silent	SNP	T	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	uc002gdd.3	-	7	868	c.717A>T	c.(715-717)CGA>CGT	p.R239R	PITPNM3_uc010cln.2_Silent_p.R203R|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	239					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCTGGTTGGCTCGCTCGATGA	0.632000													10	50					0	0	0.093190	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			18	9					0	0	0.049695	0	0
MPRIP	23164	broad.mit.edu	37	17	16979036	16979036	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:16979036T>C	uc002gqu.1	+	2	192	c.136T>C	c.(136-138)TAT>CAT	p.Y46H	MPRIP_uc002gqv.1_Missense_Mutation_p.Y46H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	46	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding				0						AAAACCCATTTATGGCGGTTG	0.547000													5	121					0	0	0.038147	0	0
SGSH	6448	broad.mit.edu	37	17	78184761	78184761	+	Silent	SNP	G	A	A	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	uc002jxz.3	-	8	1086	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	SGSH_uc002jya.3_Silent_p.Y130Y|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase precursor	333					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAAAGATGGCGTAGCTGGGGT	0.652000													4	80					0	0	0.021553	0	0
MUC16	94025	broad.mit.edu	37	19	9087885	9087885	+	Silent	SNP	A	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	uc002mkp.2	-	1	4134	c.3930T>C	c.(3928-3930)CCT>CCC	p.P1310P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1310	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAGTCTCTCCAGGAGCTGTCA	0.507000													4	62					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9089322	9089322	+	Silent	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	uc002mkp.2	-	1	2697	c.2493G>A	c.(2491-2493)TCG>TCA	p.S831S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	831	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GACTCTCTGACGATTCTGAAG	0.498000													40	217					0	0	0.139131	0	0
DOCK6	57572	broad.mit.edu	37	19	11347158	11347158	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	uc002mqs.3	-	20	2297	c.2256C>T	c.(2254-2256)AAC>AAT	p.N752N	DOCK6_uc010xlq.1_Silent_p.N56N|LOC55908_uc010dxw.2_5'Flank|LOC55908_uc010dxx.2_5'Flank	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCTGCTCCACGTTGCCCTCGC	0.647000													3	9					0	0	0.115264	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502409	35502409	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:35502409G>A	uc010xse.1	+	7	694	c.557G>A	c.(556-558)CGC>CAC	p.R186H	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R273H|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R179H|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Missense_Mutation_p.R191H|GRAMD1A_uc002nxm.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	186						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCCGTGACCGCTGCTTCCTC	0.617000													4	185					0	0	0.014758	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591981	27591981	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	uc002rkb.2	-	4	453	c.310C>T	c.(310-312)CGT>TGT	p.R104C	EIF2B4_uc002rjz.2_Missense_Mutation_p.R124C|EIF2B4_uc002rka.2_Missense_Mutation_p.R89C|EIF2B4_uc002rkc.2_Missense_Mutation_p.R103C|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.R73C|EIF2B4_uc002rkf.1_Missense_Mutation_p.R73C|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	104					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602000													59	108					0	0	0.139131	0	0
PROKR1	10887	broad.mit.edu	37	2	68873428	68873428	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	uc010yqj.1	+	1	475	c.475G>A	c.(475-477)GCC>ACC	p.A159T	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	159	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						GCTGGCCATCGCCATTGACAG	0.592000													20	95					0	0	0.091800	0	0
TTN	7273	broad.mit.edu	37	2	179641277	179641277	+	Missense_Mutation	SNP	T	A	A	rs150725992	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:179641277T>A	uc010zfg.1	-	28	5538	c.5314A>T	c.(5314-5316)AGT>TGT	p.S1772C	TTN_uc010zfh.1_Missense_Mutation_p.S1726C|TTN_uc010zfi.1_Missense_Mutation_p.S1726C|TTN_uc010zfj.1_Missense_Mutation_p.S1726C|TTN_uc002unb.2_Missense_Mutation_p.S1772C|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1772							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATACCACTGTCTCTAGAA	0.428000													3	75					0	0	0.014758	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								30	72					0	0	0.064281	0	0
MLPH	79083	broad.mit.edu	37	2	238449504	238449504	+	Silent	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	uc002vwt.2	+	11	1577	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D	MLPH_uc002vws.2_Silent_p.D307D|MLPH_uc010fyt.1_Silent_p.D422D|MLPH_uc002vwu.2_Silent_p.D422D|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Silent_p.D306D|MLPH_uc010fyu.2_Silent_p.D202D	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	450	Potential.						metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ACCCTGGGGACCCCGTCCAGT	0.607000													8	24					0	0	0.038147	0	0
RAB17	64284	broad.mit.edu	37	2	238483770	238483770	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	uc002vwz.1	-	6	1175	c.531C>T	c.(529-531)GCC>GCT	p.A177A	RAB17_uc002vxa.1_RNA|RAB17_uc002vxb.1_RNA	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding				0		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667000													16	31					0	0	0.049695	0	0
JAG1	182	broad.mit.edu	37	20	10624439	10624439	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	uc002wnw.2	-	20	2961	c.2445C>T	c.(2443-2445)CCC>CCT	p.P815P	JAG1_uc010gcd.1_Silent_p.P373P	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	815	EGF-like 15; calcium-binding (Potential).|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TTCTGCAGTCGGGCCCAGCAA	0.498000									Alagille_Syndrome				19	39					0	0	0.069288	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134724	13134724	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	uc002wod.1	+	10	1643	c.1354A>G	c.(1354-1356)ATC>GTC	p.I452V		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	452					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GGGATTCATTATCTATGGCAA	0.428000													7	54					0	0	0.047766	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912352	13912352	+	Silent	SNP	T	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	uc010gcf.2	-	3	262	c.180A>C	c.(178-180)GTA>GTC	p.V60V	SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.V60V|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	60	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						TTTTATTGATTACATTACTAG	0.274000													3	34					0	0	0.115264	0	0
BSN	8927	broad.mit.edu	37	3	49692138	49692138	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	uc003cxe.3	+	5	5263	c.5149A>T	c.(5149-5151)AAC>TAC	p.N1717Y		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1717					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGGTTATCAACCTCAATGC	0.567000													10	261					0	0	0.080935	0	0
ITIH4	3700	broad.mit.edu	37	3	52850942	52850942	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	uc003dfz.2	-	21	2465	c.2429C>T	c.(2428-2430)TCT>TTT	p.S810F	ITIH4_uc011bel.1_Missense_Mutation_p.S524F|ITIH4_uc003dfy.2_Missense_Mutation_p.S605F|ITIH4_uc011bem.1_Missense_Mutation_p.S815F|ITIH4_uc011ben.1_Missense_Mutation_p.S780F	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	810					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577000													32	212					0	0	0.064281	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135825112	135825112	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	uc003eqv.1	+	13	3842	c.3277G>A	c.(3277-3279)GAG>AAG	p.E1093K	PPP2R3A_uc011blz.1_Missense_Mutation_p.E357K|PPP2R3A_uc003eqw.1_Missense_Mutation_p.E472K	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	1093					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TGCCGCTGAGGAGTATGAGAC	0.463000													28	58					0	0	0.064281	0	0
ATR	545	broad.mit.edu	37	3	142224106	142224106	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	uc003eux.3	-	29	5193	c.5071G>A	c.(5071-5073)GGA>AGA	p.G1691R		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1691	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						GCACTGACTCCGGCCACTCCA	0.388000								Other_conserved_DNA_damage_response_genes					29	229					0	0	0.074837	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380248	6380248	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:6380248G>A	uc003gjc.2	-	3	590	c.220C>T	c.(220-222)CAG>TAG	p.Q74*	PPP2R2C_uc003gjb.2_Nonsense_Mutation_p.Q57*|PPP2R2C_uc011bwd.1_Nonsense_Mutation_p.Q67*|PPP2R2C_uc011bwe.1_Nonsense_Mutation_p.Q67*|PPP2R2C_uc003gja.2_Nonsense_Mutation_p.Q74*|PPP2R2C_uc003gjd.1_Nonsense_Mutation_p.Q162*	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	74					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TCGTGGCTCTGGAAAGTGCTG	0.577000													4	140					0	0	0.014758	0	0
DRD5	1816	broad.mit.edu	37	4	9784872	9784872	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	uc003gmb.3	+	1	1615	c.1219G>A	c.(1219-1221)GCA>ACA	p.A407T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	407	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAGGAAATCGCAGCTGCCTA	0.582000													4	68					0	0	0.009096	0	0
SPATA18	132671	broad.mit.edu	37	4	52927044	52927044	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:52927044G>A	uc003gzl.2	+	3	568	c.290G>A	c.(289-291)AGC>AAC	p.S97N	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.S97N|SPATA18_uc003gzk.1_Missense_Mutation_p.S97N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	97					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTGTTGACAGCAAGGTCCCC	0.478000													3	51					0	0	0.115264	0	0
FAT4	79633	broad.mit.edu	37	4	126240610	126240610	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	uc003ifj.3	+	1	3044	c.3044T>C	c.(3043-3045)TTC>TCC	p.F1015S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1015	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTCTCGATTCTTTAAAGTA	0.388000													5	118					0	0	0.029380	0	0
SH3RF1	57630	broad.mit.edu	37	4	170043326	170043326	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	uc003isa.1	-	7	1606	c.1271C>T	c.(1270-1272)GCT>GTT	p.A424V	SH3RF1_uc010irc.1_Missense_Mutation_p.A124V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	424	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCATTCCAGCAGCAGCAGC	0.597000													4	49					0	0	0.009096	0	0
KLKB1	3818	broad.mit.edu	37	4	187173298	187173298	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:187173298A>G	uc003iyy.2	+	11	1343	c.1272A>G	c.(1270-1272)ATA>ATG	p.I424M	KLKB1_uc011clc.1_Missense_Mutation_p.I222M|KLKB1_uc011cld.1_Missense_Mutation_p.I386M	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	424	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTCACTCATAGGACACCAGT	0.522000													3	105					0	0	0.009096	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058222	41058222	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:41058222C>G	uc003jmj.3	-	7	1189	c.699G>C	c.(697-699)CAG>CAC	p.Q233H	HEATR7B2_uc003jmi.3_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	233	HEAT 2.						binding			ovary(6)|central_nervous_system(2)	8						GCCAGGGCACCTGGCCCAGGG	0.532000													3	23					0	0	0.115264	0	0
HSD17B4	3295	broad.mit.edu	37	5	118829578	118829578	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	uc003ksj.2	+	11	928	c.805G>C	c.(805-807)GTC>CTC	p.V269L	HSD17B4_uc011cwg.1_Missense_Mutation_p.V245L|HSD17B4_uc011cwh.1_Missense_Mutation_p.V251L|HSD17B4_uc011cwi.1_Missense_Mutation_p.V294L|HSD17B4_uc003ksk.3_Missense_Mutation_p.V122L|HSD17B4_uc011cwj.1_Missense_Mutation_p.V122L|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCCTGAGGCAGTCAAGGCTAA	0.473000													5	62					0	0	0.021553	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130825275	130825275	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	uc003kvn.1	-	15	2010	c.1804A>G	c.(1804-1806)ACT>GCT	p.T602A	RAPGEF6_uc003kvp.1_Missense_Mutation_p.T652A|RAPGEF6_uc003kvo.1_Missense_Mutation_p.T602A|RAPGEF6_uc010jdi.1_Missense_Mutation_p.T602A|RAPGEF6_uc010jdj.1_Missense_Mutation_p.T602A|RAPGEF6_uc003kvq.2_Missense_Mutation_p.T319A|RAPGEF6_uc003kvr.2_Missense_Mutation_p.T602A|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.T602A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	602	PDZ.				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			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269000													7	13					0	0	0.058154	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249832	140249832	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	uc003lia.2	+	1	2002	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G382R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	382	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTCAACGGACAGGTGAC	0.602000													16	113					0	0	0.043863	0	0
TIMD4	91937	broad.mit.edu	37	5	156378737	156378737	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:156378737G>A	uc003lwh.2	-	3	522	c.465C>T	c.(463-465)ACC>ACT	p.T155T	TIMD4_uc010jii.2_Silent_p.T155T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	155	Extracellular (Potential).|Thr-rich.					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGGTGGTGGTGGGGCTTG	0.532000													10	367					0	0	0.080935	0	0
BAT3	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:31612931C>G	uc003nvg.3	-	10	1493	c.1179G>C	c.(1177-1179)CGG>CGC	p.R393R	BAT3_uc003nvf.3_Silent_p.R387R|BAT3_uc003nvh.3_Silent_p.R387R|BAT3_uc003nvi.3_Silent_p.R387R|BAT3_uc011dnw.1_Silent_p.R387R|BAT3_uc011dnx.1_Silent_p.R387R|BAT3_uc003nvj.1_Silent_p.R387R	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	393	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TTGGGGGGGGCCGAGTCCCAT	0.557000													3	151					0	0	0.009096	0	0
ITPR3	3710	broad.mit.edu	37	6	33656101	33656101	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	uc011drk.1	+	48	6680	c.6461G>A	c.(6460-6462)CGG>CAG	p.R2154Q	ITPR3_uc003oey.2_Missense_Mutation_p.R241Q	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2154	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						ACCAAGCACCGGCTCTTCACC	0.597000													46	105					0	0	0.139131	0	0
SLC17A5	26503	broad.mit.edu	37	6	74354177	74354177	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	uc003phn.3	-	2	372	c.244G>T	c.(244-246)GCG>TCG	p.A82S	SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_5'UTR	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	82					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						TCTGGACACGCCTTGGAAGTT	0.348000													10	35					2.27111e-07	2.37434e-07	0.093190	1	0
ENPP3	5169	broad.mit.edu	37	6	131996232	131996232	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	uc003qcu.3	+	10	1122	c.775G>A	c.(775-777)GCA>ACA	p.A259T	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.A225T|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A259T	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	259	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTGGCTGACAGCAATGTATCA	0.388000													11	40					0	0	0.105934	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	uc003qxt.2	+	3	451	c.219G>A	c.(217-219)CAG>CAA	p.Q73Q	TBP_uc003qxu.2_Silent_p.Q73Q|TBP_uc011ehf.1_Silent_p.Q53Q|TBP_uc011ehg.1_Silent_p.Q73Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				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			ovary(1)	1		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)		agcagcaacagcaacagcagc	0.149000													3	17					0	0	0.021553	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871082G>A	uc003qxt.2	+	3	490	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	TBP_uc003qxu.2_Silent_p.Q86Q|TBP_uc011ehf.1_Silent_p.Q66Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				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			ovary(1)	1		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)		agcagcagcagcagcagcagc	0.199000													3	23					0	0	0.014758	0	0
SFRP4	6424	broad.mit.edu	37	7	37955897	37955897	+	Silent	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:37955897G>A	uc003tfo.3	-	1	629	c.243C>T	c.(241-243)TAC>TAT	p.Y81Y		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	81	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						AAATGGGCGCGTACATGGCAC	0.622000													3	53					0	0	0.115264	0	0
ABCA13	154664	broad.mit.edu	37	7	48313892	48313892	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	uc003toq.2	+	17	4654	c.4629T>G	c.(4627-4629)ATT>ATG	p.I1543M	ABCA13_uc010kyr.2_Missense_Mutation_p.I1046M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1543					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTCAAAATATTTGGCTTCATT	0.299000													6	56					0	0	0.029380	0	0
ANK1	286	broad.mit.edu	37	8	41552258	41552258	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	uc003xok.2	-	28	3263	c.3179C>T	c.(3178-3180)CCG>CTG	p.P1060L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.P376L|ANK1_uc003xoi.2_Missense_Mutation_p.P1060L|ANK1_uc003xoj.2_Missense_Mutation_p.P1060L|ANK1_uc003xol.2_Missense_Mutation_p.P1060L|ANK1_uc003xom.2_Missense_Mutation_p.P1101L	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1060					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602000													12	66					0	0	0.146539	0	0
ZNF484	83744	broad.mit.edu	37	9	95610656	95610656	+	Missense_Mutation	SNP	C	T	T	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	uc004asu.1	-	5	562	c.413G>A	c.(412-414)CGT>CAT	p.R138H	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R140H|ZNF484_uc010mrb.1_Missense_Mutation_p.R102H|ZNF484_uc004asv.1_Missense_Mutation_p.R102H	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGACAACACGACTTAAAGG	0.368000													41	60					0	0	0.098360	0	0
LAMC3	10319	broad.mit.edu	37	9	133932363	133932363	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	uc004caa.1	+	12	2085	c.1987C>T	c.(1987-1989)CTT>TTT	p.L663F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	663	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607000													18	126					0	0	0.083992	0	0
TUBB2C	10383	broad.mit.edu	37	9	140137441	140137441	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:140137441G>C	uc004cmh.1	+	4	873	c.771G>C	c.(769-771)ATG>ATC	p.M257I	TUBB2C_uc004cmg.1_Missense_Mutation_p.M111I	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	257					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGTGAACATGGTCCCGTTTC	0.652000													5	36					0	0	0.021553	0	0
GEMIN8	54960	broad.mit.edu	37	X	14027048	14027048	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:14027048A>G	uc004cwb.2	-	5	1056	c.713T>C	c.(712-714)ATC>ACC	p.I238T	GEMIN8_uc004cwc.2_Missense_Mutation_p.I238T|GEMIN8_uc004cwd.2_Missense_Mutation_p.I238T	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	238					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						CTTCAGGGGGATGACCGGCCA	0.552000													3	101					0	0	0.009096	0	0
GDPD2	54857	broad.mit.edu	37	X	69652260	69652260	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	uc004dyh.2	+	13	1662	c.1411G>A	c.(1411-1413)GAC>AAC	p.D471N	GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.D522N|GDPD2_uc011mpl.1_Missense_Mutation_p.D392N|GDPD2_uc011mpm.1_Missense_Mutation_p.D392N	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	471	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512000													49	106					0	0	0.139131	0	0
MCTS1	28985	broad.mit.edu	37	X	119739938	119739938	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	uc004esx.2	+	3	517	c.169G>A	c.(169-171)GAA>AAA	p.E57K	MCTS1_uc011mub.1_Missense_Mutation_p.E58K	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	57					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						TTACAGCCATGAACATATAGA	0.299000													4	50					0	0	0.014758	0	0
GRIA3	2892	broad.mit.edu	37	X	122538740	122538740	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	uc004etq.3	+	11	1768	c.1475G>A	c.(1474-1476)GGC>GAC	p.G492D	GRIA3_uc004etr.3_Missense_Mutation_p.G492D|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.G476D	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	492	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	ATATGGAACGGCATGGTTGGG	0.378000													31	242					0	0	0.104719	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	uc004euk.1	-	1	815	c.788G>A	c.(787-789)CGC>CAC	p.R263H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263	WD 3.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CCGTACCTTGCGGTTGCTGGG	0.637000													5	54					0	0	0.021553	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904329	144904329	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:144904329C>A	uc004fcd.2	+	5	1376	c.386C>A	c.(385-387)ACC>AAC	p.T129N	SLITRK2_uc010nsp.2_Missense_Mutation_p.T129N|SLITRK2_uc010nso.2_Missense_Mutation_p.T129N|SLITRK2_uc011mwq.1_Missense_Mutation_p.T129N|SLITRK2_uc011mwr.1_Missense_Mutation_p.T129N|SLITRK2_uc011mws.1_Missense_Mutation_p.T129N|SLITRK2_uc004fcg.2_Missense_Mutation_p.T129N|SLITRK2_uc011mwt.1_Missense_Mutation_p.T129N	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	129	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGACACCTTCCTAGGC	0.502000													4	58					0.00909568	0.00940228	0.009096	1	0
MIR509-1	574514	broad.mit.edu	37	X	146342106	146342106	+	RNA	SNP	A	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:146342106A>T	hsa-mir-509-1|MI0003196	-			c.38A>T			MIR509-2_hsa-mir-509-2|MI0005530_5'Flank|MIR509-3_hsa-mir-509-3|MI0005717_5'Flank																	0						ATTATACATGATTGCCACTGT	0.428000													5	267					0	0	0.047766	0	0
AFF2	2334	broad.mit.edu	37	X	148048318	148048318	+	Splice_Site	SNP	A	C	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:148048318A>C	uc004fcp.2	+	14	3393	c.2914_splice	c.e14-2	p.E972_splice	AFF2_uc004fcq.2_Splice_Site_p.E962_splice|AFF2_uc004fcr.2_Splice_Site_p.E933_splice|AFF2_uc011mxb.1_Splice_Site_p.E937_splice|AFF2_uc004fcs.2_Splice_Site_p.E937_splice|AFF2_uc011mxc.1_Splice_Site_p.E613_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2						brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTTTCCCAGGAGGGAGAC	0.323000													5	155					0	0	0.014758	0	0
GABRA3	2556	broad.mit.edu	37	X	151336862	151336862	+	Silent	SNP	C	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	uc010ntk.1	-	10	1557	c.1317G>A	c.(1315-1317)GTG>GTA	p.V439V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	439	Cytoplasmic (Probable).				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			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGTCCTGCACGTAGGTGG	0.522000													80	203					0	0	0.139131	0	0
OR4A16	81327	broad.mit.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	A	A	rs78513473		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	uc010rie.1	+	1	63_64	c.63_64insA	c.(61-66)GTGAAAfs	p.V21fs		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	21_22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						ATCCTGATGTGAAAAAAACATT	0.416													18	62	---	---	---	---					
CSRP2	1466	broad.mit.edu	37	12	77253345	77253347	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	uc001syl.1	-	5	568_570	c.485_487delAAG	c.(484-489)GAAGGT>GGT	p.E162del		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	162	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						TAGATTTCACCTTCTTTTTCAGT	0.374													9	25	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819161	2819163	+	In_Frame_Del	DEL	TCT	-	-	rs149101693	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:2819161_2819163delTCT	uc002crk.2	+	12	8446_8448	c.7897_7899delTCT	c.(7897-7899)TCTdel	p.S2648del		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ctcctcttcctcttcttcttctt	0.276													16	48	---	---	---	---					
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	uc003qii.2	-	3	1001	c.422delA	c.(421-423)AAGfs	p.K141fs	REPS1_uc003qig.3_Frame_Shift_Del_p.K141fs|REPS1_uc011edr.1_Frame_Shift_Del_p.K141fs|REPS1_uc003qij.2_Frame_Shift_Del_p.K141fs|REPS1_uc003qik.2_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													8	327	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:146350671_146350672insT	uc010khw.1	+	2	488_489	c.18_19insT	c.(16-21)TTGTTTfs	p.L6fs	GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	6_7					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													7	154	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	-	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	uc003vjy.2	+	20	6022_6025	c.5627_5630delAAAT	c.(5626-5631)AAAATAfs	p.K1876fs	PTPRZ1_uc003vjz.2_Frame_Shift_Del_p.K1009fs|PTPRZ1_uc011knt.1_Frame_Shift_Del_p.K466fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1876_1877	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AGAAACACAAAAATAAAAAAGGTG	0.382													8	45	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939638	76939639	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	uc004ecp.3	-	9	1341_1342	c.1109_1110insA	c.(1108-1110)TATfs	p.Y370fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.Y332fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.Y155fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.Y331fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.Y370fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.Y315fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	370					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AAAATTTAACATAACTGGAGTT	0.371			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						64	130	---	---	---	---					
