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
NOTCH2	4853	broad.mit.edu	37	1	120468319	120468319	+	Missense_Mutation	SNP	A	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	uc001eik.2	-	25	4376	c.4120T>A	c.(4120-4122)TGC>AGC	p.C1374S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1374	Extracellular (Potential).|EGF-like 35.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGACTCGCAGTCCCGGGGA	0.642000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				22	18					0	0	0.654019	0	0
SFT2D2	375035	broad.mit.edu	37	1	168205989	168205989	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	uc001gfi.3	+	6	457	c.394C>T	c.(394-396)CAG>TAG	p.Q132*	TBX19_uc001gfj.3_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	SFT2 domain containing 2	132	Helical; Name=4; (Potential).				protein transport|vesicle-mediated transport	integral to membrane				skin(1)	1	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403000													112	148					0	0	0.870114	0	0
TPR	7175	broad.mit.edu	37	1	186292829	186292829	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	uc001grv.2	-	43	6583	c.6286C>T	c.(6286-6288)CCA>TCA	p.P2096S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2096					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463000			T	NTRK1	papillary thyroid								80	133					0	0	0.870114	0	0
SPATA17	128153	broad.mit.edu	37	1	217915355	217915355	+	Missense_Mutation	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	uc001hlh.1	+	6	460	c.434A>G	c.(433-435)GAA>GGA	p.E145G	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.E145G	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	145						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403000													32	28					0	0	0.779181	0	0
TRIM58	25893	broad.mit.edu	37	1	248039522	248039522	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	uc001ido.2	+	6	1240	c.1192C>T	c.(1192-1194)CCA>TCA	p.P398S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	398	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512000													24	165					0	0	0.706142	0	0
OR2L2	26246	broad.mit.edu	37	1	248202456	248202456	+	Missense_Mutation	SNP	T	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	uc001idw.2	+	1	983	c.887T>C	c.(886-888)GTG>GCG	p.V296A	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463000													60	73					0	0	0.870114	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:37430948C>G	uc001iza.1	+	7	1054	c.955C>G	c.(955-957)CCA>GCA	p.P319A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGCCAGCAAAAGG	0.423000													3	117					0	0	0.184627	0	0
CDHR1	92211	broad.mit.edu	37	10	85967935	85967935	+	Silent	SNP	T	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:85967935T>C	uc001kcv.2	+	11	969	c.969T>C	c.(967-969)ACT>ACC	p.T323T	CDHR1_uc001kcw.2_Silent_p.T323T|CDHR1_uc009xst.2_Silent_p.T82T	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	323	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CCCAGGTGACTGAAATGAGCC	0.542000													4	109					0	0	0.184627	0	0
HPSE2	60495	broad.mit.edu	37	10	100401630	100401630	+	Missense_Mutation	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:100401630A>G	uc001kpn.1	-	7	1132	c.1072T>C	c.(1072-1074)TCT>CCT	p.S358P	HPSE2_uc009xwc.1_Missense_Mutation_p.S348P|HPSE2_uc001kpo.1_Missense_Mutation_p.S290P|HPSE2_uc009xwd.1_Missense_Mutation_p.S236P	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	358					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413000													6	229					0	0	0.335167	0	0
OR9G9	504191	broad.mit.edu	37	11	56468238	56468238	+	Silent	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	uc010rjn.1	+	1	375	c.375C>T	c.(373-375)ATC>ATT	p.I125I		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACGTGGCCATCTCCAAGCCCC	0.522000													6	149					0	0	0.307466	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403262	65403262	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	uc001oey.2	+	32	5447	c.5447G>A	c.(5446-5448)CGC>CAC	p.R1816H	PCNXL3_uc001oez.2_Missense_Mutation_p.R703H	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1816						integral to membrane					0						TGGCTCCTGCGCACCTGGGAG	0.687000													7	7					0	0	0.335167	0	0
SPTBN2	6712	broad.mit.edu	37	11	66476410	66476410	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:66476410G>A	uc001ojd.2	-	10	1226	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	385	Spectrin 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CTCGCGGGGCGTGTAGACCTT	0.627000													3	88					0	0	0.115264	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19475547	19475547	+	Silent	SNP	T	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	uc001reb.2	+	15	2171	c.2085T>C	c.(2083-2085)GAT>GAC	p.D695D	PLEKHA5_uc010sie.1_Silent_p.D798D|PLEKHA5_uc001rea.2_Silent_p.D753D|PLEKHA5_uc009zin.2_Silent_p.D453D|PLEKHA5_uc010sif.1_Silent_p.D626D|PLEKHA5_uc010sig.1_Silent_p.D614D|PLEKHA5_uc010sih.1_Silent_p.D587D|PLEKHA5_uc001rec.1_Silent_p.D441D|PLEKHA5_uc009zio.2_Silent_p.D17D	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	695							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TACAAAGGGATGATTTACAAA	0.408000													56	56					0	0	0.870114	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Silent	SNP	G	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:58158993G>T	uc001spz.1	-	4	743	c.591C>A	c.(589-591)GGC>GGA	p.G197G	CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Missense_Mutation_p.H78N|CYP27B1_uc001sqc.1_Missense_Mutation_p.H78N	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	197					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	59					0.000274275	0.000285246	0.307466	1	0
KIAA0564	23078	broad.mit.edu	37	13	42293731	42293731	+	Missense_Mutation	SNP	T	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:42293731T>C	uc001uyj.2	-	26	3182	c.3112A>G	c.(3112-3114)AAG>GAG	p.K1038E	KIAA0564_uc001uyk.2_Missense_Mutation_p.K1038E	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1038						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CCTTACTCCTTTGCCAGCTGC	0.373000													57	60					0	0	0.870114	0	0
LOC647288	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:75814354C>G	uc010ths.1	-	1	164	c.123G>C	c.(121-123)TGG>TGC	p.W41C		NR_027466				Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).												0						CCACCAGTTCCCATGGAAAAC	0.488000													4	48					0	0	0.248553	0	0
FSCB	84075	broad.mit.edu	37	14	44974303	44974303	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr14:44974303C>T	uc001wvn.2	-	1	2197	c.1888G>A	c.(1888-1890)GCC>ACC	p.A630T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	630	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.642000													5	9					0	0	0.278610	0	0
APBA2	321	broad.mit.edu	37	15	29346413	29346413	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:29346413G>A	uc001zck.2	+	3	533	c.326G>A	c.(325-327)AGC>AAC	p.S109N	APBA2_uc010azj.2_Missense_Mutation_p.S109N|APBA2_uc010uat.1_Missense_Mutation_p.S109N|APBA2_uc001zcl.2_Missense_Mutation_p.S109N|APBA2_uc010uas.1_Missense_Mutation_p.S109N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	109					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGACGACAGCTACCTAGAG	0.607000													4	178					0	0	0.150653	0	0
ZNF609	23060	broad.mit.edu	37	15	64966267	64966267	+	Missense_Mutation	SNP	C	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	uc002ann.2	+	4	1214	c.1214C>G	c.(1213-1215)GCC>GGC	p.A405G		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	405						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CGGGCAGGAGCCAATAGCAAA	0.567000													67	104					0	0	0.870114	0	0
GGA2	23062	broad.mit.edu	37	16	23491094	23491094	+	Missense_Mutation	SNP	G	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	uc002dlq.2	-	11	1197	c.1121C>A	c.(1120-1122)GCA>GAA	p.A374E	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	374	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		ACCCAAGGCTGCCAGGTCCTG	0.612000													11	73					0.000566183	0.000581083	0.520397	1	0
ABCC12	94160	broad.mit.edu	37	16	48145730	48145730	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	uc002efc.1	-	14	2427	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	694	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTGCATAGCGCCCTCTCTC	0.463000													33	65					0	0	0.827153	0	0
SLC6A2	6530	broad.mit.edu	37	16	55734096	55734096	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:55734096G>A	uc002eif.2	+	13	1747	c.1636G>A	c.(1636-1638)GAC>AAC	p.D546N	SLC6A2_uc010ccd.2_Intron|SLC6A2_uc002eig.2_Missense_Mutation_p.D546N|SLC6A2_uc002eih.2_Missense_Mutation_p.D546N|SLC6A2_uc002eii.2_Missense_Mutation_p.D441N|SLC6A2_uc002eij.2_Missense_Mutation_p.D260N	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	546					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCTACGACGACTACAT	0.418000													5	138					0	0	0.217242	0	0
WDR81	124997	broad.mit.edu	37	17	1637326	1637326	+	Silent	SNP	C	T	T	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	uc002fti.2	+	7	1575	c.1314C>T	c.(1312-1314)AGC>AGT	p.S438S	WDR81_uc002fth.2_Silent_p.S614S|WDR81_uc010vqp.1_Silent_p.S462S|WDR81_uc002ftj.2_Silent_p.S1665S|WDR81_uc010vqq.1_Silent_p.S296S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	438										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTCCTGAGCGGCAGCAAGG	0.657000													44	67					0	0	0.870114	0	0
RABEP1	9135	broad.mit.edu	37	17	5257698	5257698	+	Silent	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	uc002gbm.3	+	8	1232	c.1008A>G	c.(1006-1008)AAA>AAG	p.K336K	RABEP1_uc010clc.1_Silent_p.K329K|RABEP1_uc010cld.1_Silent_p.K293K|RABEP1_uc010vsw.1_Silent_p.K293K|RABEP1_uc002gbl.3_Silent_p.K336K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	336	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						AGGATCACAAAAAAGCAGATG	0.338000													25	24					0	0	0.693898	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	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)			23	4					0	0	0.608945	0	0
CASC3	22794	broad.mit.edu	37	17	38320314	38320314	+	Missense_Mutation	SNP	G	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	uc010cwt.1	+	7	1661	c.1366G>T	c.(1366-1368)GAT>TAT	p.D456Y	CASC3_uc010cws.1_Missense_Mutation_p.D456Y|CASC3_uc002hue.2_Missense_Mutation_p.D456Y	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	456	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGCTCCGGTGGATTCTAGTAC	0.542000													29	34					9.17885e-22	9.80754e-22	0.779181	1	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:39280087G>A	uc002hwa.2	-	1	333	c.288C>T	c.(286-288)TGC>TGT	p.C96C		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	17.|31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.512000													9	240					0	0	0.307466	0	0
G6PC	2538	broad.mit.edu	37	17	41059590	41059590	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	uc002icb.1	+	3	470	c.391G>A	c.(391-393)GTC>ATC	p.V131I	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	131	Helical; (Potential).				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517000									Glycogen_Storage_Disease_type_Ia				21	45					0	0	0.740014	0	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:7810766C>T	uc002mht.2	-	4	453	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						AGCCTTCAGCCGGGTCAGCTC	0.567000													8	231					0	0	0.278610	0	0
RFX1	5989	broad.mit.edu	37	19	14077272	14077272	+	Missense_Mutation	SNP	T	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	uc002mxv.2	-	14	2194	c.1922A>G	c.(1921-1923)TAC>TGC	p.Y641C		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	641					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCTGAGGTTGTACCTCCAGAA	0.642000													22	25					0	0	0.693898	0	0
RASIP1	54922	broad.mit.edu	37	19	49227649	49227649	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	uc002pki.2	-	10	2686	c.2489G>A	c.(2488-2490)CGG>CAG	p.R830Q	RASIP1_uc002pkh.2_Missense_Mutation_p.R91Q	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	830	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGAGTTTCCGGAAGAACTC	0.572000													53	66					0	0	0.870114	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:50370414A>G	uc002pqh.2	-	1	100	c.48T>C	c.(46-48)CCT>CCC	p.P16P	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other_BER_factors					6	19					0	0	0.435327	0	0
ZNF83	55769	broad.mit.edu	37	19	53116801	53116801	+	Silent	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53116801G>A	uc002pzu.3	-	2	2261	c.1017C>T	c.(1015-1017)CAC>CAT	p.H339H	ZNF83_uc002pzv.3_Silent_p.H339H|ZNF83_uc010eps.2_Silent_p.H311H|ZNF83_uc010ept.2_Silent_p.H339H|ZNF83_uc010epu.2_Silent_p.H339H|ZNF83_uc010epv.2_Silent_p.H339H|ZNF83_uc010epw.2_Silent_p.H339H|ZNF83_uc010epx.2_Silent_p.H311H|ZNF83_uc010epy.2_Silent_p.H339H|ZNF83_uc010epz.2_Silent_p.H311H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	339	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGGATTCTCC	0.418000													6	246					0	0	0.217242	0	0
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53116804G>A	uc002pzu.3	-	2	2258	c.1014C>T	c.(1012-1014)ATC>ATT	p.I338I	ZNF83_uc002pzv.3_Silent_p.I338I|ZNF83_uc010eps.2_Silent_p.I310I|ZNF83_uc010ept.2_Silent_p.I338I|ZNF83_uc010epu.2_Silent_p.I338I|ZNF83_uc010epv.2_Silent_p.I338I|ZNF83_uc010epw.2_Silent_p.I338I|ZNF83_uc010epx.2_Silent_p.I310I|ZNF83_uc010epy.2_Silent_p.I338I|ZNF83_uc010epz.2_Silent_p.I310I	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	338	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000													8	250					0	0	0.278610	0	0
ZNF761	388561	broad.mit.edu	37	19	53958983	53958983	+	Missense_Mutation	SNP	A	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53958983A>C	uc010eqp.2	+	7	1680	c.1222A>C	c.(1222-1224)AAA>CAA	p.K408Q	ZNF761_uc010ydy.1_Missense_Mutation_p.K354Q|ZNF761_uc002qbt.1_Missense_Mutation_p.K354Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TACTGGAGAGAAACCTTACAA	0.368000													4	229					0	0	0.184627	0	0
EFEMP1	2202	broad.mit.edu	37	2	56149562	56149562	+	Missense_Mutation	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:56149562A>G	uc002rzh.2	-	2	344	c.14T>C	c.(13-15)CTT>CCT	p.L5P	EFEMP1_uc002rzi.2_Missense_Mutation_p.L5P|EFEMP1_uc002rzj.2_Missense_Mutation_p.L5P|EFEMP1_uc010ypc.1_5'UTR	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	5					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTAGGAAAAGGGCTTTCAA	0.433000													3	148					0	0	0.184627	0	0
COL5A2	1290	broad.mit.edu	37	2	189933563	189933563	+	Silent	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	uc002uqk.2	-	19	1481	c.1206G>A	c.(1204-1206)GGG>GGA	p.G402G	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	402					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502000													17	26					0	0	0.592651	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	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 								54	52					0	0	0.870114	0	0
IRS1	3667	broad.mit.edu	37	2	227661149	227661149	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	uc002voh.3	-	1	2358	c.2306G>A	c.(2305-2307)AGA>AAA	p.R769K		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	769					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAAAGGATCTTGGCAATGA	0.627000													142	173					0	0	0.870114	0	0
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	uc002xli.1	-	2	1870	c.997G>A	c.(997-999)GAC>AAC	p.D333N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	333	MORN 8.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662000													37	26					0	0	0.840704	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007647	32007647	+	Missense_Mutation	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	uc011adg.1	+	1	65	c.65A>G	c.(64-66)TAT>TGT	p.Y22C		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	22						intermediate filament				central_nervous_system(1)	1						GGCGGTGGCTATGGCTGTGGC	0.562000													62	64					0	0	0.870114	0	0
LOC96610	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:22661478T>G	uc011aim.1	+	28		c.1702T>G			LOC96610_uc011aiq.1_RNA|LOC96610_uc011aip.1_RNA|LOC96610_uc010gto.2_RNA					Parts of antibodies, mostly variable regions.												0						CAGATGCGTCTGAAGAAACAT	0.488000													3	57					0	0	0.278610	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:38120282C>T	uc003atr.2	+	7	1990	c.1719C>T	c.(1717-1719)GAC>GAT	p.D573D	TRIOBP_uc003atu.2_Silent_p.D401D|TRIOBP_uc003atq.1_Silent_p.D573D|TRIOBP_uc003ats.1_Silent_p.D401D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587000													4	134					0	0	0.150653	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	G	G	rs141527317		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	uc003bkb.1	-	16	4088	c.3576T>C	c.(3574-3576)TCT>TCC	p.S1192S	TUBGCP6_uc003bka.1_Silent_p.S279S|TUBGCP6_uc010har.1_Silent_p.S1184S|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	7.|9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617000													6	128					0	0	0.248553	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	A	A	rs143925165	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:32032046G>A	uc011axg.1	+	2	2024	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGACCTTCCGTCACAATTCA	0.403000													4	125					0	0	0.150653	0	0
SCN10A	6336	broad.mit.edu	37	3	38768259	38768259	+	Silent	SNP	T	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	uc003ciq.2	-	16	2925	c.2925A>G	c.(2923-2925)CAA>CAG	p.Q975Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	975					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCTGGGAGCTTGGAGCCCTC	0.577000													27	34					0	0	0.760397	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	uc003gce.2	+	6	889	c.728G>A	c.(727-729)CGT>CAT	p.R243H	FGFRL1_uc003gcf.2_Missense_Mutation_p.R243H|FGFRL1_uc003gcg.2_Missense_Mutation_p.R243H|FGFRL1_uc010ibo.2_Missense_Mutation_p.R243H	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243	Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711000													36	46					0	0	0.840704	0	0
EVC2	132884	broad.mit.edu	37	4	5586352	5586352	+	Missense_Mutation	SNP	G	A	A	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	uc003gij.2	-	17	3109	c.3055C>T	c.(3055-3057)CGG>TGG	p.R1019W	EVC2_uc011bwb.1_Missense_Mutation_p.R459W|EVC2_uc003gik.2_Missense_Mutation_p.R939W	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1019	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCACTCACCCGGCTGTGCGAC	0.483000													11	10					0	0	0.435327	0	0
AFP	174	broad.mit.edu	37	4	74316388	74316388	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	uc003hgz.1	+	11	1393	c.1346C>T	c.(1345-1347)GCC>GTC	p.A449V	AFP_uc003hha.1_Missense_Mutation_p.A449V|AFP_uc011cbg.1_Missense_Mutation_p.A223V	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	449	Albumin 3.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTGATGGCCATCACCAGA	0.507000									Alpha-Fetoprotein_Hereditary_Persistence_of				37	39					0	0	0.796494	0	0
C4orf37	285555	broad.mit.edu	37	4	99030425	99030425	+	Missense_Mutation	SNP	C	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:99030425C>A	uc003htt.1	-	4	509	c.419G>T	c.(418-420)GGT>GTT	p.G140V		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	140											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AAAATGTATACCTTTGTATTT	0.313000													30	42					6.00712e-18	6.33183e-18	0.760397	1	0
PRDM9	56979	broad.mit.edu	37	5	23527167	23527167	+	Missense_Mutation	SNP	G	C	C	rs112679149		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr5:23527167G>C	uc003jgo.2	+	11	2152	c.1970G>C	c.(1969-1971)AGA>ACA	p.R657T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	657	C2H2-type 6.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						CACCAGAGGAGACACACAGGG	0.607000										HNSCC(3;0.000094)			3	100					0	0	0.248553	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41070936	41070936	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr5:41070936C>A	uc003jmj.3	-	1	509	c.19G>T	c.(19-21)GAA>TAA	p.E7*		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	7							binding			ovary(6)|central_nervous_system(2)	8						CCTATGGATTCCTCTGTACTA	0.423000													7	9					0.00307968	0.00311967	0.278610	1	0
MICA	4276	broad.mit.edu	37	6	31379973	31379973	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:31379973G>A	uc003ntk.1	+	4	902	c.863G>A	c.(862-864)GGG>GAG	p.G288E	MICA_uc003rxz.1_Missense_Mutation_p.G150E					RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;												0		Ovarian(999;0.0253)				GAACACAGCGGGAATCACAGC	0.612000													3	46					0	0	0.150653	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974943	32974943	+	Silent	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	uc003ocr.2	-	4	739	c.663T>C	c.(661-663)TGT>TGC	p.C221C	HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	221	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GGCCCAGGGCACAGACCAGGG	0.577000													43	71					0	0	0.870114	0	0
PKHD1	5314	broad.mit.edu	37	6	51892645	51892645	+	Missense_Mutation	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	uc003pah.1	-	31	3886	c.3610T>C	c.(3610-3612)TGC>CGC	p.C1204R	PKHD1_uc003pai.2_Missense_Mutation_p.C1204R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1204	Extracellular (Potential).|IPT/TIG 7.		C -> Y.		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GACCCACAGCAAGGCTCGATG	0.413000													30	52					0	0	0.796494	0	0
ZNF727	442319	broad.mit.edu	37	7	63538609	63538609	+	Silent	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:63538609A>G	uc011kdm.1	+	4	1361	c.1182A>G	c.(1180-1182)AAA>AAG	p.K394K		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	zinc finger protein 727	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGGAGAGAAACCCTACAAAT	0.373000													4	29					0	0	0.150653	0	0
WBSCR17	64409	broad.mit.edu	37	7	71135022	71135022	+	Missense_Mutation	SNP	G	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	uc003tvy.2	+	8	1332	c.1332G>C	c.(1330-1332)AAG>AAC	p.K444N	WBSCR17_uc003tvz.2_Missense_Mutation_p.K143N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	444	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAAGTGTAAGAATTTCCAGT	0.438000													67	110					0	0	0.870114	0	0
ADAM28	10863	broad.mit.edu	37	8	24151678	24151678	+	Missense_Mutation	SNP	C	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	uc003xdy.2	+	1	99	c.16C>G	c.(16-18)CTG>GTG	p.L6V	ADAM28_uc003xdx.2_Missense_Mutation_p.L6V|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	6					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498000													74	81					0	0	0.870114	0	0
HAUS6	54801	broad.mit.edu	37	9	19093229	19093229	+	Missense_Mutation	SNP	G	A	A	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	uc003znk.2	-	4	629	c.376C>T	c.(376-378)CAT>TAT	p.H126Y	HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						TACATCAGATGAATAAACTTA	0.294000													4	26					0	0	0.184627	0	0
HAUS6	54801	broad.mit.edu	37	9	19093264	19093264	+	Nonsense_Mutation	SNP	G	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	uc003znk.2	-	4	594	c.341C>G	c.(340-342)TCA>TGA	p.S114*	HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	114					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						AAGAAATAGTGAACCAACAAC	0.313000													6	31					0	0	0.335167	0	0
ANXA2P2	304	broad.mit.edu	37	9	33625260	33625260	+	Missense_Mutation	SNP	C	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:33625260C>T	uc010mjx.2	+	1	1038	c.989C>T	c.(988-990)GCG>GTG	p.A330V		NM_004039	NP_004030			annexin A2 isoform 2												0						TACCAGAAAGCGCTGCTGTAC	0.473000													32	14					0	0	0.834066	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140572	39140572	+	Missense_Mutation	SNP	A	C	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	uc004abi.2	-	12	2059	c.1820T>G	c.(1819-1821)ATT>AGT	p.I607S	CNTNAP3_uc004abj.2_Missense_Mutation_p.I607S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.I607S|CNTNAP3_uc011lqs.1_Missense_Mutation_p.I514S|CNTNAP3_uc004abl.1_Missense_Mutation_p.I426S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	607	Fibrinogen C-terminal.|Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453000													38	40					0	0	0.847076	0	0
SVEP1	79987	broad.mit.edu	37	9	113275228	113275228	+	Silent	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	uc010mtz.2	-	5	1618	c.1281C>T	c.(1279-1281)TCC>TCT	p.S427S	SVEP1_uc010mua.1_Silent_p.S427S|SVEP1_uc004beu.2_Silent_p.S427S|SVEP1_uc004bev.2_Silent_p.S171S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	427	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TCTCTGAACCGGACCACAAAC	0.443000													31	54					0	0	0.834066	0	0
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	T	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	uc011lyx.1	+	1	809	c.809G>T	c.(808-810)GGG>GTG	p.G270V		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	270	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						CTCTTCTATGGGTCTCTTATG	0.473000													49	49					4.25531e-23	4.60992e-23	0.870114	1	0
FANCB	2187	broad.mit.edu	37	X	14863149	14863149	+	Missense_Mutation	SNP	G	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	uc004cwg.1	-	8	2024	c.1756C>T	c.(1756-1758)CCA>TCA	p.P586S	FANCB_uc004cwh.1_Missense_Mutation_p.P586S	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	586					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388000								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				78	13					0	0	0.870114	0	0
GRPR	2925	broad.mit.edu	37	X	16170454	16170454	+	Missense_Mutation	SNP	C	A	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	uc004cxj.2	+	3	1494	c.841C>A	c.(841-843)CAT>AAT	p.H281N		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	281	Helical; Name=6; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547000													149	19					4.26566e-80	4.68622e-80	0.870114	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221993	118221993	+	Missense_Mutation	SNP	A	G	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:118221993A>G	uc004era.3	-	11	3200	c.3200T>C	c.(3199-3201)ATG>ACG	p.M1067T		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1067										ovary(4)|skin(1)	5						AGAAGTACTCATTGAGTCCAG	0.522000													3	52					0	0	0.115264	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:6727803_6727804delTC	uc001aof.2	-	4	449_450	c.343_344delGA	c.(343-345)GAAfs	p.E115fs	DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	115					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													11	89	---	---	---	---					
AMBRA1	55626	broad.mit.edu	37	11	46456428	46456429	+	Frame_Shift_Ins	INS	-	GGTTATGGGG	GGTTATGGGG			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	uc010rgu.1	-	13	3151_3152	c.2791_2792insCCCCATAACC	c.(2791-2793)CTGfs	p.L931fs	AMBRA1_uc010rgt.1_Frame_Shift_Ins_p.L497fs|AMBRA1_uc009ylc.1_Frame_Shift_Ins_p.L902fs|AMBRA1_uc001ncu.1_Frame_Shift_Ins_p.L841fs|AMBRA1_uc001ncv.2_Frame_Shift_Ins_p.L934fs|AMBRA1_uc001ncw.2_Frame_Shift_Ins_p.L812fs|AMBRA1_uc001ncx.2_Frame_Shift_Ins_p.L871fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	931					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTTCGCCCAGGTTATGGGGG	0.569													8	17	---	---	---	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	-	-	rs142692092	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	uc001say.2	-	1	462_479	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)GGAGGGGCTGGTGGCTTTGGT>GGT	p.132_138GGAGGFG>G		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	132_138	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						accaggaccaccaaagccaccagcccctccaaagccac	0.183													4	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	uc003adj.2	-	1	1882_1884	c.927_929delGCA	c.(925-930)CAGCAT>CAT	p.Q309del		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	309							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GAACACACCAtgctgctgctgct	0.463			T	ETV6	AML|meningioma								2	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28195625	28195627	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	uc003adj.2	-	1	1860_1862	c.905_907delAGC	c.(904-909)CAGCCC>CCC	p.Q302del		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	302	Poly-Gln.						binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						tgctgctggggctgctgctgctg	0.483			T	ETV6	AML|meningioma								2	4	---	---	---	---					
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	uc003sup.1	-	4	864_866	c.843_845delGAA	c.(841-846)AAGAAA>AAA	p.281_282KK>K		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	281_282	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						CTGGTGCTTTTTCTTCTTCTTCT	0.433													7	504	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	-	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	uc004ecp.3	-	9	3365_3369	c.3133_3137delAAAAG	c.(3133-3138)AAAAGTfs	p.K1045fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.K1007fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K830fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K977fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K1016fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K990fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1045_1046					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						35	19	---	---	---	---					
