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
TFCP2L1	29842	broad.mit.edu	37	2	121991692	121991692	+	Silent	SNP	G	G	A	rs140466557	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:121991692G>A	uc002tmx.3	-	11	1266	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	TFCP2L1_uc010flr.3_Silent_p.D391D|TFCP2L1_uc010flq.3_Non-coding_Transcript	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	391					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCACTGCCGTCCCGCTTCT	0.572000													14	119					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr13:25275010C>T	uc010aaa.3	+	12	2182	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ATP12A_uc001upp.3_Missense_Mutation_p.R611W	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	611					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.D616E(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGATCCCCCTCGGTCCACCGT	0.483000													5	93					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145066754	145066754	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:145066754T>A	uc003zan.1	+	5	1110	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	GRINA_uc003zao.1_Missense_Mutation_p.L315Q|GRINA_uc003zap.1_Missense_Mutation_p.L315Q	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	315						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACGCCTCACTGGGCGCTCTG	0.617000													20	37					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661766	99661766	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:99661766G>A	uc010nmz.3	-	0	3506	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	PCDH19_uc004efw.4_Silent_p.G610G|PCDH19_uc004efx.4_Silent_p.G610G	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	610	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E609K(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCCGCGGTCGCCCTCGGTCA	0.562000													3	33					0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57144243	57144243	+	Splice_Site	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:57144243G>A	uc001njv.2	-	6	869	c.759_splice	c.e6+1			NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.						basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GTCAGGAAATGCTGTGGGAAG	0.547000													41	48					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108717302	108717302	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:108717302A>C	uc003kos.4	-	2	354	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	45					long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATGGTTTAAAACTGACATA	0.443000													9	76					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188111	121188111	+	Silent	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:121188111C>T	uc003kss.3	+	0	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	151	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582000													11	114					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96798962	96798962	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr14:96798962A>G	uc001yfi.3	-	8	1603	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	413										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGACATGTCCATATCAGCCAT	0.378000													7	63					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904125	21904125	+	RNA	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:21904125G>A	uc002gza.2	+	0		c.64G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggagtcgcaaggggccgagca	0.697000													7	106					0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97136314	97136314	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:97136314C>A	uc021rcc.1	+	18	2522	c.2444C>A	c.(2443-2445)gCa>gAa	p.A815E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	815										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCCGCTTAGCATTGGTGACT	0.348000													14	20					6.31663e-08	7.31399e-08	1	1	0
TTC23	64927	broad.mit.edu	37	15	99678265	99678265	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr15:99678265G>A	uc002bur.3	-	12	1825	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	TTC23_uc002bus.3_Missense_Mutation_p.P432S|TTC23_uc002but.3_Missense_Mutation_p.P432S|TTC23_uc002buu.3_Missense_Mutation_p.P432S|TTC23_uc002buv.3_Missense_Mutation_p.P432S|TTC23_uc002bux.3_Missense_Mutation_p.P432S|TTC23_uc002buw.3_Missense_Mutation_p.P432S|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.P432S|TTC23_uc010bor.3_Missense_Mutation_p.P432S	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	432							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTGTCCTGAGGGATGCTGGTG	0.607000													5	46					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:70944989G>A	uc003kbs.4	+	13	1420	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512000													3	60					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35715132	35715132	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr9:35715132G>T	uc003zxt.2	-	20	3032	c.2678C>A	c.(2677-2679)gCa>gAa	p.A893E		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	893					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTCAGCTGCCTCCCGCAG	0.622000													5	55					1	1	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134988660	134988660	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:134988660G>A	uc004ezh.3	+	6	853	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SAGE1_uc010nry.1_Missense_Mutation_p.R198H|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	229								p.R229C(2)|p.R228Q(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CGACCACGGCGTATTAATATG	0.423000													5	129					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57601869	57601869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:57601869G>A	uc001snd.3	+	76	12374	c.11908G>A	c.(11908-11910)Gga>Aga	p.G3970R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3970					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTGGCCGGAAACGTGTA	0.577000													22	32					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128710473	128710473	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:128710473C>G	uc004euq.3	+	17	2224	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	OCRL_uc004eur.3_Missense_Mutation_p.L687V	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTAGAGGCTCTGTGCCGTAT	0.403000													41	7					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153654206	153654206	+	Silent	SNP	C	C	T	rs148390726		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:153654206C>T	uc001fcs.4	+	3	1483	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	NPR1_uc010pdz.2_Silent_p.H100H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	354					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATCCTTCCACGACGGGCTCC	0.582000													6	99					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80785076	80785076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:80785076G>T	uc003khp.3	-	5	636	c.425C>A	c.(424-426)cCt>cAt	p.P142H	SSBP2_uc003khn.3_Missense_Mutation_p.P16H|SSBP2_uc011ctr.2_Missense_Mutation_p.P112H|SSBP2_uc003kho.3_Missense_Mutation_p.P142H|SSBP2_uc011ctp.2_Intron|SSBP2_uc011ctq.2_Missense_Mutation_p.P112H	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	142	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TACCTGATTAGGTATCCTCAA	0.328000													6	28					5.9392e-07	6.70064e-07	1	1	0
FKBP7	51661	broad.mit.edu	37	2	179341854	179341854	+	Missense_Mutation	SNP	A	A	G	rs144779588		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:179341854A>G	uc002umk.3	-	1	437	c.308T>C	c.(307-309)aTg>aCg	p.M103T	MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.M103T|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.M99T	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.	103	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCAGGGCACATATCTGTCAT	0.393000													41	63					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	rs144773246	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:140482147C>G	uc003lio.3	+	0	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	638	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H638Q(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697000													4	109					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782405	54782405	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:54782405C>A	uc002qfb.3	-	6	1233	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.G323C|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G323C|LILRB2_uc010yet.2_Missense_Mutation_p.G207C|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	323					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGGGTGTGCCACGGATCTGT	0.597000													6	50					0.0215528	0.0225791	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102372528	102372528	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:102372528G>A	uc003pqp.4	+	11	2094	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	GRIK2_uc010kcw.3_Missense_Mutation_p.V601M|GRIK2_uc003pqo.4_Missense_Mutation_p.V601M|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	601					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.D600D(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGACTCAGACGTGGTGGAAAA	0.418000													9	102					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	11					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:53865444G>A	uc001sdl.4	+	13	1264	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_uc001sde.4_Missense_Mutation_p.R301H|PCBP2_uc001sdi.4_Missense_Mutation_p.R275H|PCBP2_uc001sdd.4_Missense_Mutation_p.R271H|PCBP2_uc001sdf.4_Missense_Mutation_p.R258H|PCBP2_uc001sdc.4_Missense_Mutation_p.R306H|PCBP2_uc001sdb.4_Missense_Mutation_p.R302H|PCBP2_uc010soi.2_Missense_Mutation_p.R43H|PCBP2_uc010soj.2_Missense_Mutation_p.R55H|PCBP2_uc001sdk.4_Missense_Mutation_p.R78H	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	305	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498000													5	37					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7578176C>T	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.3_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.2_Missense_Mutation_p.V186I|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	22					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156729	20156729	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:20156729T>C	uc004czt.3	-	1	236	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	10						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308000													35	5					0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123519791	123519791	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:123519791C>A	uc010nqy.3	-	28	5876	c.5812G>T	c.(5812-5814)Ggc>Tgc	p.G1938C	ODZ1_uc011muj.2_Missense_Mutation_p.G1937C|ODZ1_uc004euj.3_Missense_Mutation_p.G1931C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1931					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CGGTAGTAGCCCACTGAAAGC	0.512000													4	54					0.00909568	0.00976122	1	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151054744	151054744	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:151054744T>C	uc011eem.1	+	1	192	c.104T>C	c.(103-105)gTg>gCg	p.V35A	PLEKHG1_uc011eel.1_Missense_Mutation_p.V16A|PLEKHG1_uc003qny.1_5'UTR|PLEKHG1_uc003qnz.2_5'UTR	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	0					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CGTCTTGAAGTGCCATCAGCT	0.453000													6	6					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504737	113504737	+	Silent	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:113504737T>C	uc003ynu.3	-	30	5418	c.5259A>G	c.(5257-5259)agA>agG	p.R1753R	CSMD3_uc003yns.3_Silent_p.R1025R|CSMD3_uc003ynt.3_Silent_p.R1713R|CSMD3_uc011lhx.2_Silent_p.R1649R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1753	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGCAAGGCTCTATTCCATC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	105					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111624387	111624387	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr7:111624387T>C	uc003vfy.3	-	6	792	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	DOCK4_uc003vfx.3_Missense_Mutation_p.I175V|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.I175V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	175					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGCTGATGTCTTCCGGA	0.463000													7	15					0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150565607	150565607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:150565607G>A	uc003ltq.3	-	5	595	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CCDC69_uc010jhu.3_Nonsense_Mutation_p.R11*|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	158										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATAGTTTCGGCTCAGAATG	0.557000													10	102					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487914	139487914	+	Silent	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:139487914G>T	uc003qin.3	+	1	1050	c.765G>T	c.(763-765)gtG>gtT	p.V255V		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	255					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAAGGCAGTGGGTGCCGCAG	0.677000													3	23					1	1	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183829476	183829476	+	Silent	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:183829476T>C	uc002upc.3	-	16	2091	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	NCKAP1_uc002upb.3_Silent_p.S569S	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	563					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAGTATCTTGATTGAGAGG	0.323000													6	79					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201382170	201382170	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:201382170T>C	uc021phe.1	-	4	269	c.269A>G	c.(268-270)aAc>aGc	p.N90S	TNNI1_uc021phd.1_Missense_Mutation_p.N69S|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Missense_Mutation_p.N69S	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	90					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCCCTGGTGTTGTGGAGGCA	0.622000													18	396					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000													4	40					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600387	42600387	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:42600387G>A	uc002osp.3	-	7	572	c.510C>T	c.(508-510)acC>acT	p.T170T	POU2F2_uc002osn.3_Intron|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Silent_p.T170T	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	170					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGTAGGGCGGGTCACGGCCT	0.711000													3	11					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38926339	38926339	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:38926339G>A	uc002hvf.3	-	3	763	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACGTTCACGTTCCCCCCAG	0.488000													61	61					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239059501	239059501	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:239059501T>C	uc002vxr.2	+	7	1639	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	511										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGTGCCACTGGGTGATGCG	0.662000													5	9					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677849	25677849	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr4:25677849G>A	uc003grr.3	+	12	1632	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	SLC34A2_uc003grs.3_Silent_p.G516G|SLC34A2_uc010iev.3_Silent_p.G516G	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	517					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGCCAAGGGGCTGGGCAACA	0.577000			T	ROS1	NSCLC								68	94					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50720927	50720927	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:50720927A>G	uc010enu.1	+	2	508	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MYH14_uc002prq.1_Missense_Mutation_p.Y154C|MYH14_uc002prr.1_Missense_Mutation_p.Y154C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	154	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCCATCTACACAGAAGCC	0.607000													53	73					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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								35	48					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70524875	70524875	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:70524875G>A	uc004dzr.1	+	10	906	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.V275I	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	293	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AATCTCCCTGGTCAAGGCTGA	0.517000													17	19					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:76599857_76599858insA	uc003pih.1	+	25	3021_3022	c.2742_2743insA	c.(2740-2745)cagaaafs	p.Q914fs	MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	914					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													9	84	---	---	---	---					
WEE1	7465	broad.mit.edu	37	11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:9595595_9595597delGAG	uc001mhs.3	+	0	368_370	c.115_117delGAG	c.(115-117)gagdel	p.E43del	WEE1_uc001mht.3_5'Flank|WEE1_uc001mhu.3_5'Flank	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	43	Poly-Glu.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739													2	4	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:6711145_6711147delTCC	uc001qpo.3	-	3	581_583	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_uc001qpn.3_In_Frame_Del_p.E132del|CHD4_uc001qpp.3_In_Frame_Del_p.E136del	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													8	58	---	---	---	---					
SH3BP1	23616	broad.mit.edu	37	22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr22:38039752_38039754delAGG	uc003ati.3	+	6	1313_1315	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_In_Frame_Del_p.E197del|SH3BP1_uc003ath.1_In_Frame_Del_p.E197del|SH3BP1_uc003atj.1_In_Frame_Del_p.E133del|SH3BP1_uc003atk.1_In_Frame_Del_p.E111del|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	197	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	127	---	---	---	---					
GPC3	2719	broad.mit.edu	37	X	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:133119384_133119386delCGG	uc010nrn.2	-	0	288_290	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_uc004exe.2_In_Frame_Del_p.P31del|GPC3_uc011mvh.2_In_Frame_Del_p.P31del|GPC3_uc010nro.2_In_Frame_Del_p.P31del|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	31						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.690			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				3	6	---	---	---	---					
