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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HSPG2	3339	broad.mit.edu	37	1	22172749	22172749	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:22172749C>T	ENST00000374695.3	-	64	8396		c.e64-1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCCGCGGGTCTGAATAGGGG	0.647000													7	6					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397924	10397924	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:10397924G>A	ENST00000226207.5	-	38	5627	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATGTTTGCGTAGACCCTTG	0.393000													44	80					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88753182	88753182	+	RNA	SNP	G	G	A	rs146841657	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:88753182G>A	ENST00000444431.1	+	0	128				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACTAGAGCCGCCACCAATAG	0.408000													48	48					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20451165	20451165	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr16:20451165A>C	ENST00000331849.4	+	13	1727	c.1580A>C	c.(1579-1581)cAt>cCt	p.H527P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	527					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACTCCTCTCATGACCCAGAG	0.473000													19	63					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791722	42791722	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:42791722C>T	ENST00000572681.2	+	6	3403	c.3335C>T	c.(3334-3336)cCc>cTc	p.P1112L	CIC_ENST00000160740.3_Missense_Mutation_p.P203L|CIC_ENST00000575354.2_Missense_Mutation_p.P203L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCCGGCGGCCCATGAATGCC	0.627000			"""Mis, F, S"""		oligodendroglioma								21	17					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898247	23898247	+	Missense_Mutation	SNP	G	G	A	rs148808089		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr14:23898247G>A	ENST00000355349.3	-	14	1486	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCATTGATGCGCGTCACCATC	0.557000													27	61					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17156657	17156657	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:17156657C>T	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAACACATACCCCTAGTTGA	0.343000													114	34					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805863	54805863	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:54805863G>A	ENST00000306858.7	+	5	2210	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	698								p.K698N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAGAAAAGCCCAAAGAAG	0.393000													19	40					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140432022	140432022	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:140432022G>C	ENST00000306549.3	+	1	1044	c.967G>C	c.(967-969)Gat>Cat	p.D323H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		323	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGCTACAGATGGTGGAGG	0.488000													4	99					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013734	149013734	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:149013734G>C	ENST00000535454.1	+	4	1237	c.688G>C	c.(688-690)Gtg>Ctg	p.V230L	MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000542674.1_Missense_Mutation_p.V230L	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	230	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATTGAGTGTGATGGGGCT	0.577000													4	93					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69465895	69465895	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:69465895C>T	ENST00000227507.2	+	5	960	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	245					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GGACTGCCTCCGGGCCTGCCA	0.667000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			11	17					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	86069792	86069792	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:86069792C>G	ENST00000373131.1	+	9	1763	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	DACH2_ENST00000510272.1_Missense_Mutation_p.L328V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V|DACH2_ENST00000373125.4_Missense_Mutation_p.L547V|DACH2_ENST00000477378.2_Intron	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAGCAGGCACTTAAGCAAGC	0.428000													7	23					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	49					0.00024832	0.000261389	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118151572	118151572	+	Silent	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:118151572C>G	ENST00000365713.2	+	10	2239	c.2076C>G	c.(2074-2076)ccC>ccG	p.P692P	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.P733P|LONRF3_ENST00000422289.2_Silent_p.P477P|LONRF3_ENST00000304778.7_Silent_p.P692P			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	733	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTCAGCTCCCCTTCCTAGCAA	0.512000													39	49					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212016	26212016	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:26212016C>T	ENST00000379034.1	+	2	202	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	18										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCCAAGAGACCAATGGTCAG	0.572000													29	38					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217915374	217915374	+	Silent	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:217915374C>T	ENST00000366933.4	+	6	508	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	151						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGGCTAACCTCGAAAGGGAAG	0.438000													22	39					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80767431	80767431	+	Silent	SNP	G	G	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr15:80767431G>T	ENST00000533983.1	+	6	795	c.456G>T	c.(454-456)gtG>gtT	p.V152V	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Silent_p.V163V|ARNT2_ENST00000527771.1_Silent_p.V152V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	163	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGATTTATGTGTCTGACTCCG	0.488000													5	127					0.000602214	0.00062298	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134054559	134054559	+	Silent	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:134054559T>C	ENST00000534548.2	-	19	2488	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	808					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTCTGCAGATGCTCTACAAA	0.463000													24	29					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43003541	43003541	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:43003541A>G	ENST00000593135.1	-	16	2563	c.2466T>C	c.(2464-2466)agT>agC	p.S822S	KIF18B_ENST00000587309.1_3'UTR|KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000339151.4_Silent_p.S825S	NM_001265577.1	NP_001252506.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCACAGGGGACTCAAGGGCA	0.642000													15	19					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621201	41621201	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:41621201C>T	ENST00000373050.4	+	4	633	c.446C>T	c.(445-447)gCc>gTc	p.A149V				Q99750	MDFI_HUMAN	MyoD family inhibitor	210					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGCGAGTGTGCCGACTGCGAC	0.662000													4	99					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252776	71252776	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:71252776C>T	ENST00000395275.2	-	7	1158	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	CALN1_ENST00000329008.5_Missense_Mutation_p.R215Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	215						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGCCGCTCCGGAGTATCTG	0.582000													15	11					0	0	1	0	0
KDELR2	0	broad.mit.edu	37	7	6505724	6505724	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:6505724G>A	ENST00000258739.4	-	4	766	c.582C>T	c.(580-582)ttC>ttT	p.F194F	KDELR2_ENST00000490996.1_Intron|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	194					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAAGTAGAAGAAGTCACAGT	0.478000													22	45					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11400821	11400821	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:11400821G>A	ENST00000259089.4	+	2	680	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	30					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GAAGGTCAGCGCCCAAGACAA	0.562000													21	25					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	rs2989545	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602000													3	21					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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 -> 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).		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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								18	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058490	9058490	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:9058490G>A	ENST00000397910.4	-	3	29159	c.28956C>T	c.(28954-28956)ccC>ccT	p.P9652P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9654	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCATGATGGGAGAGGTAG	0.488000													25	41					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487634	108487634	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:108487634A>G	ENST00000408999.3	+	20	3251	c.3174A>G	c.(3172-3174)aaA>aaG	p.K1058K	RGPD4_ENST00000354986.4_Silent_p.K1058K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1058	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGGTGAAAAAGTTCTGTATT	0.393000													14	512					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155236942	155236942	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr4:155236942C>G	ENST00000357232.3	-	15	3852	c.3853G>C	c.(3853-3855)Ggg>Cgg	p.G1285R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368000													3	61					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24552177	24552177	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:24552177A>G	ENST00000441463.2	+	11	1209	c.1209A>G	c.(1207-1209)aaA>aaG	p.K403K	PDK3_ENST00000379162.4_Silent_p.K403K	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	403					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAAATACAAAGCAAAACAGT	0.428000													8	27					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59024689	59024689	+	Silent	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:59024689T>C	ENST00000589222.1	+	14	1265	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000390652.5_Silent_p.L399L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000408905.3_Silent_p.L399L|BCAS3_ENST00000588874.1_Silent_p.L170L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	399						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTATACTCTTCACAGGGGAG	0.408000													67	103					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897333	38897333	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:38897333G>C	ENST00000359357.3	+	73	10768	c.10514G>C	c.(10513-10515)aGc>aCc	p.S3505T	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGAGGACAGCCTTTCCTTG	0.418000													10	130					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	21					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105905388	105905388	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:105905388C>T	ENST00000372548.4	+	12	2231	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTATTCCACGGAAATTTAT	0.408000													26	42					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012113	53012113	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53012113C>T	ENST00000305748.3	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	66	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCCACCCACTGCCACTG	0.642000													62	113					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727662	137727662	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:137727662G>A	ENST00000314358.5	+	8	2541	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	781					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCCTCCCCGGCAGATTTTTC	0.537000													5	346					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627180	14627180	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:14627180G>A	ENST00000218075.4	+	7	1313	c.783G>A	c.(781-783)atG>atA	p.M261I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	261					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGATCCAGATGTACATCCCAA	0.443000													52	82					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855029	76855029	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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	p.K1936T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTTCCCCTTTTTCCCTTT	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	351					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765354	18765354	+	Splice_Site	SNP	C	C	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:18765354C>A	ENST00000304081.4	-	5	991	c.891_splice	c.e5+1	p.K297_splice	NT5C1B_ENST00000359846.2_Splice_Site_p.K357_splice|NT5C1B_ENST00000600945.1_Splice_Site_p.K357_splice|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357_splice	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCAGAATACCTTGACGAAGC	0.562000													30	41					8.4185e-14	9.18382e-14	1	1	0
NBN	4683	broad.mit.edu	37	8	90967619	90967619	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:90967619T>C	ENST00000265433.3	-	10	1443	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	430					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGTGAAAGCTGATAGTTTGG	0.393000								Homologous recombination					34	94					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708285	126708285	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126708285G>A	ENST00000393409.2	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V	PLXNA1_ENST00000251772.4_Silent_p.V260V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	283	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAAGATCGTGCGGCTCTGTG	0.602000													11	201					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75899313	75899313	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:75899313C>G	ENST00000322507.8	-	6	922	c.613G>C	c.(613-615)Gct>Cct	p.A205P	COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P|COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	205	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTATTGCAGCAAGAAGTTCA	0.333000													34	84					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7231124	7231124	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:7231124G>A	ENST00000399464.2	-	2	377	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGGCCCGTGGCACTGCT	0.602000													19	37					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412696	130412696	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:130412696G>A	ENST00000370904.1	-	18	2663	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	IGSF1_ENST00000361420.3_Silent_p.L594L|IGSF1_ENST00000370903.3_Silent_p.L599L|IGSF1_ENST00000370910.1_Silent_p.L585L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	594					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGCCCACAGCTCAGGCTTA	0.537000													41	56					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014419	114014419	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:114014419C>T	ENST00000481065.1	+	3	2905	c.290C>T	c.(289-291)aCg>aTg	p.T97M	TIGIT_ENST00000486257.1_Missense_Mutation_p.T30M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	30	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						ATAGAAACAACGGGGAACATT	0.502000													11	166					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17077304	17077304	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:17077304C>T	ENST00000395811.5	+	18	2593	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	MPRIP_ENST00000341712.4_Missense_Mutation_p.A835V|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	835	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGAGAATGCCCATCTGGCC	0.662000													3	43					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580378	7580378	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:7580378A>G	ENST00000379802.3	+	23	4296	c.3955A>G	c.(3955-3957)Acc>Gcc	p.T1319A	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1319	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGCTGCCAAGACCATTCAGGA	0.517000													4	107					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968722	138968722	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:138968722C>T	ENST00000288561.8	+	15	3071	c.2822C>T	c.(2821-2823)aCg>aTg	p.T941M	UBN2_ENST00000473989.2_Missense_Mutation_p.T1024M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1024	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGATCTCCACGCAGGGTTTC	0.542000													26	26					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													11	8	---	---	---	---					
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126220106delT	ENST00000290868.2	-	10	973	c.920delA	c.(919-921)agfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587													8	234	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaa>ga	p.EYDRL462del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	462					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			11	25	---	---	---	---					
SUPT3H	8464	broad.mit.edu	37	6	45289563	45289563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:45289563delT	ENST00000371460.1	-	4	421	c.104delA	c.(103-105)atfs	p.N35fs	SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	346					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGGAAGGATATTGTGATAACA	0.343													2	4	---	---	---	---					
RADIL	55698	broad.mit.edu	37	7	4843373	4843373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:4843373delT	ENST00000399583.3	-	11	2490	c.2303delA	c.(2302-2304)ggfs	p.E768fs	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	768					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGTAGGACTCCAGAACATC	0.642													2	4	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	95	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													10	168	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	RNA	INS	-	-	G	rs141646579	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:7080210_7080211insG	ENST00000546220.1	+	0	155_156				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													5	11	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													4	8	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2079941	2079941	+	RNA	DEL	A	A	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr18:2079941delA	ENST00000579097.1	-	0	310																											tatgacagctaaaacaagaag	0.408													2	4	---	---	---	---