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
MAT2A	4144	broad.mit.edu	37	2	85770060	85770060	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:85770060A>G	ENST00000306434.3	+	8	1111	c.988A>G	c.(988-990)Atc>Gtc	p.I330V	MAT2A_ENST00000409017.1_Missense_Mutation_p.I267V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	330					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCCATTATCTATCTCCATTTT	0.388000													13	46					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575411	136575411	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:136575411C>G	ENST00000264162.2	-	6	1217	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	403	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCCACCCTCGGCCCAGCCT	0.627000													15	65					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70222703	70222703	+	Silent	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:70222703T>C	ENST00000253925.7	+	25	3596	c.3381T>C	c.(3379-3381)gaT>gaC	p.D1127D	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Silent_p.D1127D|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1127					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAGGTTTGATGAAGTAAGTT	0.323000													15	59					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34192216	34192216	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:34192216C>T	ENST00000373381.4	-	16	2615	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	773	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCAAGGCATCCTTGTAGAAGC	0.617000													8	32					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													3	7					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117389236	117389236	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr9:117389236A>T	ENST00000374049.4	+	4	714	c.277A>T	c.(277-279)Aga>Tga	p.R93*	C9orf91_ENST00000471206.1_3'UTR|C9orf91_ENST00000288502.4_Nonsense_Mutation_p.R92*	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	92						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GCCCCAAGTGAGAAGATATAT	0.582000													12	124					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35704673	35704673	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:35704673A>G	ENST00000440995.2	+	17	2401	c.2401A>G	c.(2401-2403)Aaa>Gaa	p.K801E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K806E|SPEF2_ENST00000509059.1_Missense_Mutation_p.K801E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	806					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGTCCTATAAAACTGCTCA	0.328000													28	31					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:124887093C>T	ENST00000356219.3	-	15	1652	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000													3	10					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195295977	195295977	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:195295977C>T	ENST00000343267.3	-	5	725	c.364G>A	c.(364-366)Gcc>Acc	p.A122T		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	122					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TAGTCGGTGGCCAGGATCCAG	0.488000													13	83					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735404	30735404	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:30735404G>A	ENST00000262518.4	+	25	5044	c.4659G>A	c.(4657-4659)tcG>tcA	p.S1553S	SRCAP_ENST00000344771.4_Silent_p.S1395S|SRCAP_ENST00000395059.2_Silent_p.S1491S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1553	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCCAGCTTCGGCTCTGGCCA	0.592000													23	37					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946355	16946355	+	RNA	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:16946355C>G	ENST00000412962.1	-	0	1164																											GCTTCTCGCTCTCGGCCAGGA	0.657000													3	12					0	0	1	0	0
C17orf85	55421	broad.mit.edu	37	17	3719527	3719527	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:3719527T>A	ENST00000158149.3	-	12	1403	c.508A>T	c.(508-510)Atc>Ttc	p.I170F	C17orf85_ENST00000389005.4_Missense_Mutation_p.I450F			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	450							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CGGTTTTTGATATTGCTTGAA	0.448000													6	23					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036315	177036315	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:177036315G>A	ENST00000468418.3	+	4	2702	c.612G>A	c.(610-612)gcG>gcA	p.A204A	HOXD3_ENST00000410016.1_Silent_p.A204A|HOXD3_ENST00000249440.3_Silent_p.A204A			P31249	HXD3_HUMAN	homeobox D3	204					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACACGAGCGCGCAGCTGGTGG	0.637000													24	29					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47531396	47531396	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:47531396A>T	ENST00000455779.1	+	3	327	c.142A>T	c.(142-144)Att>Ttt	p.I48F	PHKB_ENST00000323584.5_Missense_Mutation_p.I55F|PHKB_ENST00000566044.1_Missense_Mutation_p.I48F|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.I55F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	55					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTATTACAGAATTGGTGAGTA	0.353000													6	14					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16943387	16943387	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:16943387G>T	ENST00000377833.4	-	52	8199	c.8134C>A	c.(8134-8136)Ctg>Atg	p.L2712M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2712	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGTGGGTCAGGCTGTCATAA	0.478000													21	66					8.04996e-18	9.321e-18	1	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113661406	113661406	+	RNA	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:113661406T>C	ENST00000393544.2	+	0	1454																											TTGTGATCTCTTTGCCCCCCT	0.498000													18	125					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62935975	62935975	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr4:62935975C>T	ENST00000514591.1	+	25	4088	c.3759C>T	c.(3757-3759)acC>acT	p.T1253T	LPHN3_ENST00000506746.1_Silent_p.T1355T|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000508946.1_Silent_p.T1296T|LPHN3_ENST00000506720.1_Silent_p.T1364T|LPHN3_ENST00000514996.1_Silent_p.T1287T|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.T1253T|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.T1312T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1231					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACGAGACCGCCCTAGAGA	0.458000													4	9					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60758824	60758824	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr15:60758824A>C	ENST00000261520.4	-	5	731	c.497T>G	c.(496-498)aTg>aGg	p.M166R	NARG2_ENST00000439632.1_Missense_Mutation_p.M29R|NARG2_ENST00000561114.1_Missense_Mutation_p.M166R	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	166						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATCAGAAAGCATATTATAATC	0.348000													15	36					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47722983	47722983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:47722983C>T	ENST00000455779.1	+	28	2826	c.2641C>T	c.(2641-2643)Cag>Tag	p.Q881*	PHKB_ENST00000323584.5_Nonsense_Mutation_p.Q888*|PHKB_ENST00000566044.1_Nonsense_Mutation_p.Q881*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.Q888*			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	888					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTATGAACTTCAGATCCGTGG	0.453000													6	75					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328287	141328287	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:141328287G>C	ENST00000286364.3	+	22	2286	c.2251G>C	c.(2251-2253)Gat>Cat	p.D751H	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.D752H			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	751					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CATCCAAATAGATATTGATGA	0.303000													19	75					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965560	93965560	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:93965560C>A	ENST00000369303.4	-	13	2552	c.2368G>T	c.(2368-2370)Gtc>Ttc	p.V790F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTTGTATAGACAGCTTCTGGA	0.383000													13	36					5.50884e-06	6.14754e-06	1	1	0
FHL2	2274	broad.mit.edu	37	2	105984180	105984180	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:105984180C>T	ENST00000336660.5	-	3	293	c.173G>A	c.(172-174)aGt>aAt	p.S58N	FHL2_ENST00000408995.1_Silent_p.E116E|FHL2_ENST00000358129.4_Silent_p.E116E|FHL2_ENST00000393353.3_Silent_p.E116E|FHL2_ENST00000393352.3_Silent_p.E116E|FHL2_ENST00000344213.4_Silent_p.E226E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Silent_p.E116E|FHL2_ENST00000409177.1_Silent_p.E232E|FHL2_ENST00000409807.1_Silent_p.E116E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TGCCCTTGTACTCCATCTTGC	0.527000													8	77					0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87188339	87188339	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:87188339G>C	ENST00000370558.4	+	4	784	c.460G>C	c.(460-462)Gat>Cat	p.D154H	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.D154H|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.D54H	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	154	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TATAGAAGGAGATTACAAAAC	0.303000													7	64					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102743642	102743642	+	RNA	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:102743642C>A	ENST00000532855.1	-	0	399							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTGGCATTTCCCTGAAATGAT	0.507000													6	18					2.7689e-08	3.13537e-08	1	1	0
ZNF331	55422	broad.mit.edu	37	19	54079994	54079994	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:54079994A>T	ENST00000253144.9	+	7	1513	c.180A>T	c.(178-180)aaA>aaT	p.K60N	ZNF331_ENST00000511593.2_Missense_Mutation_p.K60N|ZNF331_ENST00000411977.2_Missense_Mutation_p.K60N|ZNF331_ENST00000513265.1_Missense_Mutation_p.K60N|ZNF331_ENST00000511154.1_Missense_Mutation_p.K60N|ZNF331_ENST00000449416.1_Missense_Mutation_p.K60N|ZNF331_ENST00000513999.1_Missense_Mutation_p.K60N|ZNF331_ENST00000512387.1_Missense_Mutation_p.K60N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTACAGAAAAAAACATTCATG	0.373000			T	?	follicular thyroid adenoma								17	20					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	18					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061966	40061966	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr22:40061966C>G	ENST00000336649.4	+	26	4077	c.4077C>G	c.(4075-4077)aaC>aaG	p.N1359K	CACNA1I_ENST00000407673.1_Missense_Mutation_p.N1318K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.N1353K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.N1318K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.N1353K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.N1318K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1353					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGCCGCCAACTACCGCTGGG	0.597000													3	61					0	0	1	0	0
POLR2M	81488	broad.mit.edu	37	15	58001429	58001429	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr15:58001429G>C	ENST00000299638.3	+	2	845	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	POLR2M_ENST00000380563.2_Missense_Mutation_p.E211Q|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000464308.1_3'UTR|POLR2M_ENST00000380557.4_Missense_Mutation_p.E54Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E608Q|GCOM1_ENST00000484300.1_3'UTR	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		ACAGTCAGAAGAAAACGCAAG	0.458000													18	32					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302282	186302282	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:186302282C>A	ENST00000439351.1	+	10	1845	c.916C>A	c.(916-918)Ctc>Atc	p.L306I	DNAJB11_ENST00000265028.3_Missense_Mutation_p.L306I			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	306					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGGGAAGGGCTCCCCAACTT	0.453000													4	72					0.00024832	0.000267422	1	1	0
ANGPTL6	83854	broad.mit.edu	37	19	10205476	10205476	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:10205476G>A	ENST00000253109.4	-	3	959	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.P241S|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.P241S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	241					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCAGGCATGGGAGAAGCCATG	0.587000													32	66					0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637180	124637180	+	Silent	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:124637180T>C	ENST00000526629.1	-	3	2329	c.882A>G	c.(880-882)aaA>aaG	p.K294K	MSANTD2_ENST00000239614.4_Silent_p.K472K|MSANTD2_ENST00000374979.3_Silent_p.K524K			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	524																	TGTAGATGGATTTGGGGGAAA	0.408000													28	65					0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56481891	56481891	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:56481891T>C	ENST00000300291.5	-	2	299	c.127A>G	c.(127-129)Acc>Gcc	p.T43A		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	43	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GTATAATTGGTAAGAGGGTAC	0.388000													6	11					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182784165	182784165	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:182784165G>A	ENST00000431877.2	+	14	3315	c.3136G>A	c.(3136-3138)Gca>Aca	p.A1046T	SSFA2_ENST00000428267.2_Missense_Mutation_p.A893T|SSFA2_ENST00000409001.1_Missense_Mutation_p.A1046T|SSFA2_ENST00000409136.1_Missense_Mutation_p.A555T|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000320370.7_Missense_Mutation_p.A1046T	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1046						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCTCCTCCGCACTCATGGT	0.522000													14	92					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90406286	90406286	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:90406286C>T	ENST00000369393.3	-	60	9291	c.9176G>A	c.(9175-9177)gGc>gAc	p.G3059D	MDN1_ENST00000428876.1_Missense_Mutation_p.G3059D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3059					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTGAGATTGCCGGGGCCCTA	0.453000													3	50					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31673915	31673915	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr20:31673915G>C	ENST00000375483.3	+	5	871	c.871G>C	c.(871-873)Gtc>Ctc	p.V291L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	291						cytoplasm|extracellular region	lipid binding										TCCTCGGCTGGTCATTGAGCG	0.587000													7	61					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597639	11597639	+	Splice_Site	SNP	T	T	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:11597639T>A	ENST00000262442.3	+	22	4815	c.4745_splice	c.e22-1	p.L1583_splice	DNAH9_ENST00000454412.2_Splice_Site_p.L1583_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1583	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCCTCAGATTGTGCCTGTG	0.453000													3	43					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077585	32077585	+	RNA	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:32077585G>A	ENST00000354689.6	+	0	200				RP11-1166P10.6_ENST00000566806.1_RNA																							GTGAAAGGCCGATTCACCATC	0.517000													111	213					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117217150	117217150	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:117217150C>T	ENST00000257575.4	+	7	1112	c.879C>T	c.(877-879)tcC>tcT	p.S293S	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Silent_p.S293S|RNFT2_ENST00000407967.3_Silent_p.S293S			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	293						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CTGTCAAGTCCAAGGTAGGCA	0.547000													14	31					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49052506	49052506	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:49052506C>T	ENST00000395474.3	+	6	3521	c.3241C>T	c.(3241-3243)Ctc>Ttc	p.L1081F	WDR6_ENST00000415265.2_Missense_Mutation_p.L499F|WDR6_ENST00000448293.1_Missense_Mutation_p.L1000F	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	1051					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTGACAGGCCTCAAGATCCT	0.567000													12	18					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581678	196581678	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:196581678A>G	ENST00000409086.3	+	7	2289	c.2014A>G	c.(2014-2016)Atg>Gtg	p.M672V	SLC39A10_ENST00000541054.1_Missense_Mutation_p.M222V|SLC39A10_ENST00000359634.5_Missense_Mutation_p.M672V	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	672					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TATAGCCTGGATGGTGATCAT	0.458000													8	92					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412849	63412849	+	Silent	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chrX:63412849A>G	ENST00000330258.3	-	2	590	c.318T>C	c.(316-318)ccT>ccC	p.P106P	AMER1_ENST00000403336.1_Silent_p.P106P|AMER1_ENST00000374869.3_Silent_p.P106P	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CAACATCTTCAGGGCCATGGG	0.562000													3	24					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													5	76					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R681*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CGATGGCTTCGTCTTTTCTTA	0.398000													10	76					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225669928	225669928	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:225669928G>A	ENST00000409592.3	-	36	4141	c.4028C>T	c.(4027-4029)tCg>tTg	p.S1343L	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1349L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1349							GTP binding	p.S1347L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTACCGTACGAAATCGTTTT	0.363000													9	89					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:7574034C>A	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512000		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)			3	11					0.115264	0.117554	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86430721	86430721	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:86430721C>T	ENST00000370571.2	-	23	2854	c.2488G>A	c.(2488-2490)Gca>Aca	p.A830T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A830T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	830	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTTCACCTGCATACCCCTTT	0.308000													7	79					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123604	34123604	+	Silent	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:34123604G>T	ENST00000373381.4	-	27	4565	c.4389C>A	c.(4387-4389)atC>atA	p.I1463I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.I336I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1423	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCACACAGCTGATCTCTGCAC	0.597000													7	67					0.000157383	0.000171894	1	1	0
BABAM1	29086	broad.mit.edu	37	19	17389761	17389761	+	Silent	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:17389761G>C	ENST00000359435.4	+	9	1087	c.894G>C	c.(892-894)ctG>ctC	p.L298L	BABAM1_ENST00000595632.1_Silent_p.L223L|CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000601043.1_Silent_p.L298L|BABAM1_ENST00000447614.2_Silent_p.L298L|BABAM1_ENST00000598188.1_Silent_p.L298L	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	298	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TGGCGAAACTGTTGGCCCACC	0.592000													8	9					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64975454	64975454	+	Silent	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:64975454T>C	ENST00000399262.2	-	6	899	c.681A>G	c.(679-681)gtA>gtG	p.V227V	JMJD1C_ENST00000402544.1_Silent_p.V8V|JMJD1C_ENST00000542921.1_Silent_p.V45V|JMJD1C_ENST00000399251.1_Silent_p.V8V|JMJD1C_ENST00000489372.2_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	227					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTGGTTCTAGTACCTAATCCA	0.299000													6	11					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94417353	94417353	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr14:94417353G>A	ENST00000555019.1	-	6	1302	c.872C>T	c.(871-873)gCc>gTc	p.A291V	ASB2_ENST00000315988.4_Missense_Mutation_p.A243V|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	243					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		ACCGTACTTGGCTAAGAACCT	0.592000													38	249					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534609	3534609	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:3534609G>C	ENST00000315677.3	-	10	2657	c.2062C>G	c.(2062-2064)Cgc>Ggc	p.R688G	DLGAP1_ENST00000400155.1_Missense_Mutation_p.R394G|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R404G|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R386G|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R394G|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R688G|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R372G|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R688G|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R386G|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R378G|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R688G|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R396G	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	688					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTGAACCTGCGGAAGCTTGGG	0.388000													11	33					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389615	150389615	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:150389615A>G	ENST00000223293.5	+	3	335	c.241A>G	c.(241-243)Atg>Gtg	p.M81V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	81						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACACCAGATATGTTTTCTTG	0.483000													10	26					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54614174	54614174	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr15:54614174G>T	ENST00000545554.1	+	13	4306	c.4306G>T	c.(4306-4308)Ggt>Tgt	p.G1436C	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1436C|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1434C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1436					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGTGCCCCGGTGTCCCTGC	0.373000													4	4					0.014758	0.0151515	1	1	0
SIM1	6492	broad.mit.edu	37	6	100896374	100896374	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:100896374G>C	ENST00000369208.3	-	7	1506	c.724C>G	c.(724-726)Ctc>Gtc	p.L242V	SIM1_ENST00000262901.4_Missense_Mutation_p.L242V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	242	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAAAGATGAGCTTCATGTCC	0.607000													7	21					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58262997	58262997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:58262997C>A	ENST00000300896.4	-	30	3852	c.3658G>T	c.(3658-3660)Gag>Tag	p.E1220*	USP32_ENST00000592339.1_Nonsense_Mutation_p.E890*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1220					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCACACTCTCATGCTCATCT	0.537000													8	54					0.00307968	0.00322633	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56996583	56996583	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:56996583G>A	ENST00000179765.5	-	20	3447	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	BAZ2A_ENST00000551812.1_Missense_Mutation_p.S1115F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S1113F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S1085F			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1115					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTGACCCAGGGAGACCGCCCG	0.488000													8	13					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67080490	67080490	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:67080490A>T	ENST00000284425.2	-	34	4441	c.4267T>A	c.(4267-4269)Ttt>Att	p.F1423I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1423	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCAGCACAAAACACAACTGC	0.517000													54	106					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chrX:77131009C>T	ENST00000358075.6	-	2	370	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418000													20	93					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45808853	45808853	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:45808853C>T	ENST00000372090.5	+	8	1595	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	TOE1_ENST00000539779.1_Missense_Mutation_p.R258W|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	338						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAAGCGGCGACGGCGACGACG	0.567000													32	128					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2829238	2829238	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chrY:2829238C>T	ENST00000155093.3	+	3	506	c.185C>T	c.(184-186)tCa>tTa	p.S62L	ZFY_ENST00000449237.1_Missense_Mutation_p.S36L|ZFY_ENST00000383052.1_Missense_Mutation_p.S62L|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GACCCAGACTCAGTTGTAATC	0.373000													19	39					0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461353	10461353	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:10461353G>C	ENST00000503804.1	+	5	996	c.475G>C	c.(475-477)Ggg>Cgg	p.G159R	ROPN1L_ENST00000274134.4_Missense_Mutation_p.G159R|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	159					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						TCCGGAGGGCGGGCCCGCTCG	0.567000													15	87					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38967297	38967297	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:38967297A>T	ENST00000357387.3	-	14	1214	c.1184T>A	c.(1183-1185)aTa>aAa	p.I395K	RICTOR_ENST00000296782.5_Missense_Mutation_p.I395K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	395					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGCAGAGAGTATCAGTGCCAA	0.318000													133	139					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274399	56274399	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:56274399C>A	ENST00000225371.5	+	7	1011	c.901C>A	c.(901-903)Cag>Aag	p.Q301K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	301					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGTCCGCAACCAGATCAACGC	0.602000													47	81					6.87076e-12	7.89625e-12	1	1	0
SPINK5	11005	broad.mit.edu	37	5	147503463	147503463	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:147503463C>G	ENST00000359874.3	+	27	2679	c.2606C>G	c.(2605-2607)cCt>cGt	p.P869R	SPINK5_ENST00000256084.7_Missense_Mutation_p.P869R|SPINK5_ENST00000398454.1_Missense_Mutation_p.P869R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	869	Kazal-like 13.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATAACCCTGTTCGAGGC	0.398000													8	8					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739741	41739741	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:41739741C>G	ENST00000242208.4	-	2	478	c.232G>C	c.(232-234)Gta>Cta	p.V78L	INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.V78L|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	78					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCTTGGGTACCGGCTGGGTG	0.532000										TSP Lung(11;0.080)			23	577					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539108	56539108	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:56539108C>T	ENST00000390649.3	+	7	1509	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	503	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTGCACGCCGCTTTTGTGT	0.632000													10	14					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115891782	115891782	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:115891782G>A	ENST00000369287.3	-	11	2083	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	C10orf118_ENST00000543782.1_Missense_Mutation_p.S204F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	606										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CAAAGAATTGGATTCAGACTG	0.378000													19	43					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:7578239C>A	ENST00000420246.2	-	6	742	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	204	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)		TCCAAATACTCCACACGCAAA	0.542000		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)			8	48					0.00621372	0.00646562	1	1	0
ACE	1636	broad.mit.edu	37	17	61574511	61574511	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr17:61574511G>A	ENST00000290866.4	+	25	3729	c.3705G>A	c.(3703-3705)ggG>ggA	p.G1235G	ACE_ENST00000577647.1_Intron|ACE_ENST00000490216.2_Intron|ACE_ENST00000421982.2_Silent_p.G440G|ACE_ENST00000290863.6_Silent_p.G661G|ACE_ENST00000413513.3_Silent_p.G620G|ACE_ENST00000428043.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1235					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTCAGAAGGGCCCCTCCCAG	0.721000													7	11					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447539	74447539	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:74447539C>T	ENST00000339953.5	-	4	613	c.492G>A	c.(490-492)ggG>ggA	p.G164G		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	164	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAGGTGCCGCCCACAGCCCA	0.612000													4	194					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	30					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238728	100238728	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:100238728G>A	ENST00000462107.1	-	3	444	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	TFR2_ENST00000431692.1_Missense_Mutation_p.P53S|TFR2_ENST00000223051.3_Missense_Mutation_p.P53S			Q9UP52	TFR2_HUMAN	transferrin receptor 2	53					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTCCATGGGGCAGAAGTGG	0.672000													3	15					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58214011	58214011	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:58214011C>A	ENST00000512439.2	-	3	502	c.306G>T	c.(304-306)ttG>ttT	p.L102F	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.L102F			Q13106	ZN154_HUMAN	zinc finger protein 154	102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGAAATCCCAACTTGGCCA	0.517000													5	68					0.000602214	0.000639593	1	1	0
ETF1	2107	broad.mit.edu	37	5	137847182	137847182	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:137847182G>T	ENST00000499810.2	-	7	1193	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	ETF1_ENST00000503014.1_Missense_Mutation_p.Q268K|ETF1_ENST00000360541.5_Missense_Mutation_p.Q282K			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	282					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTCTCTTGAATGAATTTC	0.353000													12	12					2.80697e-09	3.20203e-09	1	1	0
NRIP1	8204	broad.mit.edu	37	21	16337575	16337575	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr21:16337575G>C	ENST00000400202.1	-	3	3651	c.2939C>G	c.(2938-2940)tCt>tGt	p.S980C	NRIP1_ENST00000318948.4_Missense_Mutation_p.S980C|NRIP1_ENST00000400199.1_Missense_Mutation_p.S980C			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	980					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCATTTAAAGAAGAAATGCT	0.418000													4	55					0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39511382	39511382	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr4:39511382A>C	ENST00000316423.6	-	6	1151	c.809T>G	c.(808-810)gTt>gGt	p.V270G	UGDH_ENST00000507089.1_Missense_Mutation_p.V173G|UGDH_ENST00000506179.1_Missense_Mutation_p.V270G|UGDH_ENST00000501493.2_Missense_Mutation_p.V203G	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	270	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAATTTACCAACACTGGCTTT	0.378000													9	25					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744737	98744737	+	Silent	SNP	T	T	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:98744737T>A	ENST00000477737.1	+	6	942	c.738T>A	c.(736-738)gtT>gtA	p.V246V	VWA3B_ENST00000451075.2_Silent_p.V96V|VWA3B_ENST00000435344.1_Silent_p.V246V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	246										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGGGGATGTTCCTGAAGAAT	0.498000													48	56					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112837	57112837	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:57112837G>A	ENST00000454682.1	-	3	2758	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAACAGGGGATGAGAGATT	0.483000			T	BCL6	NHL								4	19					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624737	624737	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:624737G>A	ENST00000321878.5	+	2	822	c.663G>A	c.(661-663)tcG>tcA	p.S221S	PIGQ_ENST00000026218.5_Silent_p.S221S|PIGQ_ENST00000409527.2_Silent_p.S221S|PIGQ_ENST00000470411.2_Silent_p.S221S	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	221	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCTGCTGTCGCTGGTCTCAG	0.662000													3	15					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	36					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906926	158906926	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:158906926G>A	ENST00000368140.1	+	2	471	c.226G>A	c.(226-228)Gga>Aga	p.G76R	PYHIN1_ENST00000368138.3_Missense_Mutation_p.G76R|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G76R|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G76R|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G76R	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	76	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCAACACTGGGAGACCTTGC	0.428000													10	43					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132006586	132006586	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:132006586G>A	ENST00000414305.1	+	14	1531	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	ENPP3_ENST00000357639.3_Silent_p.G401G|ENPP3_ENST00000358229.5_Silent_p.G401G			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	401	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TGTACGAAGGGCCTGCCCCCC	0.358000													16	171					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86430720	86430720	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:86430720G>A	ENST00000370571.2	-	23	2855	c.2489C>T	c.(2488-2490)gCa>gTa	p.A830V	COL24A1_ENST00000436319.1_Missense_Mutation_p.A830V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	830	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGTTCACCTGCATACCCCTT	0.308000													7	79					0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75928804	75928804	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr8:75928804G>A	ENST00000262207.4	+	7	1200	c.732G>A	c.(730-732)ggG>ggA	p.G244G	CRISPLD1_ENST00000523524.1_Silent_p.G56G|CRISPLD1_ENST00000517786.1_Silent_p.G58G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	244						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAACAGAAGGGTCAGACAGGT	0.353000													11	114					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100286454	100286454	+	Silent	SNP	T	T	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr8:100286454T>G	ENST00000395996.1	+	18	2655	c.2544T>G	c.(2542-2544)acT>acG	p.T848T	VPS13B_ENST00000358544.2_Silent_p.T848T|VPS13B_ENST00000357162.2_Silent_p.T848T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	848					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGCCAACTCTTGAGGGCT	0.378000													52	75					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10254818	10254818	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:10254818G>T	ENST00000280326.4	+	3	619	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	CCT5_ENST00000503026.1_Missense_Mutation_p.D46Y|CCT5_ENST00000515676.1_Missense_Mutation_p.D29Y|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	67					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAAGGATGGAGATGTGACTGT	0.413000													49	55					1.35964e-18	1.58624e-18	1	1	0
ADARB1	104	broad.mit.edu	37	21	46596376	46596376	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr21:46596376G>A	ENST00000539173.1	+	4	1195	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ADARB1_ENST00000360697.3_Missense_Mutation_p.E254K|ADARB1_ENST00000389863.4_Missense_Mutation_p.E254K|ADARB1_ENST00000348831.4_Missense_Mutation_p.E254K|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	254	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTTCCTCTCCGAGAGCGGGGA	0.562000													5	69					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150928976	150928976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:150928976G>A	ENST00000261800.5	-	8	4681	c.4669C>T	c.(4669-4671)Cag>Tag	p.Q1557*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1557	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.Q1557E(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATGGAGCTGAGTGAAGCGG	0.572000													8	25					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5083632	5083632	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:5083632C>T	ENST00000312251.3	-	2	203	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.E62K	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	62					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCCAACTCTCGTGCTCGCGG	0.756000													3	15					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196881986	196881986	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:196881986G>C	ENST00000367416.2	+	7	1248	c.1111G>C	c.(1111-1113)Gat>Cat	p.D371H	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.D125H|CFHR4_ENST00000251424.4_Missense_Mutation_p.D125H	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGCAACAGCAGATGGAAATTC	0.294000													5	102					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80197508	80197508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:80197508C>T	ENST00000392959.1	-	9	1918	c.1307G>A	c.(1306-1308)tGg>tAg	p.W436*	LCA5_ENST00000369846.4_Nonsense_Mutation_p.W436*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	436					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCAGTTTCCCACTCTGGCTT	0.348000													17	41					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122227521	122227521	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:122227521T>C	ENST00000263710.4	-	9	1117	c.728A>G	c.(727-729)gAt>gGt	p.D243G	CLASP1_ENST00000409078.3_Missense_Mutation_p.D243G|CLASP1_ENST00000397587.3_Missense_Mutation_p.D243G|CLASP1_ENST00000541859.1_Missense_Mutation_p.D12G|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000545861.1_Missense_Mutation_p.D11G|CLASP1_ENST00000455322.2_Missense_Mutation_p.D243G|CLASP1_ENST00000541377.1_Missense_Mutation_p.D243G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	243					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.D243G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AGAATCTTCATCGTCGAAATT	0.368000													30	48					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23564343	23564343	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr14:23564343C>T	ENST00000262710.1	-	1	480	c.153G>A	c.(151-153)acG>acA	p.T51T	ACIN1_ENST00000605057.1_5'UTR|ACIN1_ENST00000555053.1_Silent_p.T51T|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000457657.1_Silent_p.T51T	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	51					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TACTCGGGTCCGTCCCGACGG	0.632000													3	56					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10745693	10745693	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:10745693C>T	ENST00000586078.1	+	12	1108	c.999C>T	c.(997-999)ctC>ctT	p.L333L	SLC44A2_ENST00000407327.4_Silent_p.L331L|SLC44A2_ENST00000335757.5_Silent_p.L333L	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	333					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTGCTGCTCATCTTTCTCC	0.557000													45	170					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108593764	108593764	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:108593764C>G	ENST00000526794.1	+	13	1572	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	DDX10_ENST00000322536.3_Missense_Mutation_p.Q514E			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	514							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTTCTTCAGAAAATGCA	0.433000			T	NUP98	AML*								4	33					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138180986	138180986	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:138180986C>T	ENST00000389567.4	+	8	1039	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	ESYT3_ENST00000289135.4_Missense_Mutation_p.R285C	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	285						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTGCCCAACCGTGTGACTGT	0.607000													16	43					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44144370	44144370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:44144370G>T	ENST00000223357.3	+	1	411	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	36					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGAGATCGAGGAGTTCCTCGA	0.726000													3	21					1	1	1	1	0
SEPT7	989	broad.mit.edu	37	7	35903185	35903185	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:35903185A>G	ENST00000494488.2	+	3	151	c.151A>G	c.(151-153)Aca>Gca	p.T51A	SEPT7_ENST00000399034.2_Missense_Mutation_p.T66A|SEPT7_ENST00000399035.3_Missense_Mutation_p.T64A|SEPT7_ENST00000435235.1_Missense_Mutation_p.T12A|SEPT7_ENST00000350320.6_Missense_Mutation_p.T64A|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.T64A			Q16181	SEPT7_HUMAN	septin 7	65					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGGAAAGTCGACATTAATCAA	0.333000													4	18					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268218	43268218	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:43268218C>T	ENST00000404209.4	-	2	376	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG8_ENST00000401467.2_Missense_Mutation_p.A94T|PSG8_ENST00000306511.4_Missense_Mutation_p.A94T|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	94	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCACTGTATGCAGGCCCATAT	0.428000													5	390					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949024	69949024	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:69949024G>A	ENST00000370598.1	+	20	3541	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H	BAI3_ENST00000238918.8_Missense_Mutation_p.R113H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R907P(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGTACATACGCTCTGAGAGA	0.368000													26	77					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948273	71948273	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:71948273G>A	ENST00000298229.2	+	26	3189	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q	INPPL1_ENST00000538751.1_Silent_p.Q753Q|INPPL1_ENST00000541756.1_Silent_p.Q753Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	995	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCCGCACCAGCTGCTGCCCC	0.642000													17	156					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391030	197391030	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:197391030G>T	ENST00000367397.1	+	2	1073	c.215G>T	c.(214-216)tGg>tTg	p.W72L	CRB1_ENST00000544212.1_Missense_Mutation_p.W172L|CRB1_ENST00000367400.3_Missense_Mutation_p.W691L|CRB1_ENST00000538660.1_Missense_Mutation_p.W691L|CRB1_ENST00000535699.1_Missense_Mutation_p.W622L|CRB1_ENST00000367399.2_Missense_Mutation_p.W579L|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	691	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCAACTTGTGGCTGAGTTAC	0.517000													4	41					0.00024832	0.000267422	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51255025	51255025	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:51255025G>A	ENST00000404971.1	-	2	1726	c.387C>T	c.(385-387)ttC>ttT	p.F129F	NRXN1_ENST00000405472.3_Silent_p.F129F|NRXN1_ENST00000405581.1_Silent_p.F129F|NRXN1_ENST00000406859.3_Silent_p.F129F|NRXN1_ENST00000401669.2_Silent_p.F129F|NRXN1_ENST00000406316.2_Silent_p.F129F|NRXN1_ENST00000402717.3_Silent_p.F129F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	129	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTGGTCGATGAAGAGCGTGG	0.672000													6	34					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391029	197391029	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:197391029T>C	ENST00000367397.1	+	2	1072	c.214T>C	c.(214-216)Tgg>Cgg	p.W72R	CRB1_ENST00000544212.1_Missense_Mutation_p.W172R|CRB1_ENST00000367400.3_Missense_Mutation_p.W691R|CRB1_ENST00000538660.1_Missense_Mutation_p.W691R|CRB1_ENST00000535699.1_Missense_Mutation_p.W622R|CRB1_ENST00000367399.2_Missense_Mutation_p.W579R|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	691	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATCAACTTGTGGCTGAGTTA	0.517000													3	42					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723421	7723421	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:7723421G>A	ENST00000303635.7	+	9	1021	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G272S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGAGCTGGCGGCAGCGTGCA	0.607000			T	WWTR1	epitheliod hemangioendothelioma								33	139					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29810641	29810641	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr16:29810641G>A	ENST00000561482.1	+	6	1249	c.612G>A	c.(610-612)ctG>ctA	p.L204L	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Silent_p.L204L|KIF22_ENST00000569382.2_Silent_p.L204L|KIF22_ENST00000160827.4_Silent_p.L272L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	272	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AACTCTACCTGATTGACTTGG	0.577000													9	14					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	rs149761766		TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACTCCCCAACGCAGGACAAG	0.502000													33	173					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070908	197070908	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:197070908G>A	ENST00000367409.4	-	18	7729	c.7473C>T	c.(7471-7473)ttC>ttT	p.F2491F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2491					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTACATCCTGAAAGTAGCCT	0.363000													5	89					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113334490	113334490	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:113334490C>T	ENST00000389385.4	+	22	2487	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	RPH3A_ENST00000415485.3_Missense_Mutation_p.R664C|RPH3A_ENST00000551052.1_Missense_Mutation_p.R660C|RPH3A_ENST00000420983.2_Missense_Mutation_p.R664C|RPH3A_ENST00000548866.1_Missense_Mutation_p.R615C|RPH3A_ENST00000543106.2_Missense_Mutation_p.R664C|RPH3A_ENST00000447659.2_Missense_Mutation_p.R615C|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	664					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAGGGAGAGCGCTTAAAACA	0.493000													12	114					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51517821	51517821	+	Silent	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:51517821C>A	ENST00000335891.5	-	1	33	c.24G>T	c.(22-24)gtG>gtT	p.V8V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	8					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTTTGGAGTCCACATGTACCA	0.413000													13	62					4.3838e-07	4.92778e-07	1	1	0
CERS4	79603	broad.mit.edu	37	19	8321561	8321561	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:8321561G>A	ENST00000558331.1	+	8	885	c.426G>A	c.(424-426)ctG>ctA	p.L142L	CERS4_ENST00000251363.5_Silent_p.L193L|CERS4_ENST00000559336.1_Silent_p.L193L|CERS4_ENST00000559450.1_Silent_p.L193L|CERS4_ENST00000595722.1_3'UTR			Q9HA82	CERS4_HUMAN	ceramide synthase 4	193	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACCTCTCACTGCTAATCAGGC	0.577000													22	66					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9204486	9204486	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:9204486G>A	ENST00000262126.3	+	4	488	c.248G>A	c.(247-249)gGa>gAa	p.G83E	ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	83						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCAGATCCAGGACATACAAGT	0.398000													3	38					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45514978	45514978	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:45514978G>A	ENST00000371438.1	+	8	1860	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	RUNX2_ENST00000371436.6_Missense_Mutation_p.S479N|RUNX2_ENST00000541979.1_Missense_Mutation_p.S547N|RUNX2_ENST00000352853.5_Missense_Mutation_p.S569N|RUNX2_ENST00000465038.2_Missense_Mutation_p.S501N|RUNX2_ENST00000371432.3_Missense_Mutation_p.S465N|RUNX2_ENST00000359524.5_Missense_Mutation_p.S487N|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	501	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGAAGCCACAGCAGTTCCCCA	0.493000													5	194					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160761787	160761787	+	Silent	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:160761787G>A	ENST00000274547.2	-	8	1021	c.804C>T	c.(802-804)taC>taT	p.Y268Y	GABRB2_ENST00000393959.1_Silent_p.Y268Y|GABRB2_ENST00000353437.6_Silent_p.Y268Y|GABRB2_ENST00000517547.1_Silent_p.Y108Y|GABRB2_ENST00000520240.1_Silent_p.Y268Y|GABRB2_ENST00000517901.1_Silent_p.Y205Y	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	268					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGAAGCATCGTAATTAATCC	0.433000													4	50					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19126393	19126393	+	Splice_Site	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr9:19126393A>G	ENST00000276914.2	-	2	210		c.e2+1		PLIN2_ENST00000380464.3_Splice_Site|PLIN2_ENST00000380465.3_Splice_Site|PLIN2_ENST00000411567.1_Splice_Site	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CAAAATTCATACCGGTTGTGG	0.423000													6	81					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99991344	99991344	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr10:99991344A>G	ENST00000314594.5	+	7	2206	c.109A>G	c.(109-111)Att>Gtt	p.I37V	R3HCC1L_ENST00000298999.3_Missense_Mutation_p.I621V|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.I621V|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.I27V	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		AGTTCCTGATATTGACCTCAG	0.393000													15	43					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42729853	42729853	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr13:42729853C>A	ENST00000538674.1	+	2	183	c.38C>A	c.(37-39)cCt>cAt	p.P13H	DGKH_ENST00000536612.1_Silent_p.A44A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.A180A|DGKH_ENST00000261491.4_Silent_p.A180A|DGKH_ENST00000540693.1_Silent_p.A180A|DGKH_ENST00000379274.2_Silent_p.A44A			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	970					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACTGGTACGCCTGCTCCCACG	0.532000													5	55					0.184627	0.185834	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36769445	36769445	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:36769445C>G	ENST00000354618.5	+	12	2919	c.2695C>G	c.(2695-2697)Cgg>Ggg	p.R899G	THRAP3_ENST00000469141.2_Missense_Mutation_p.R899G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	899					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCCGGGGCCGGGGCCGAGG	0.597000			T	USP6	aneurysmal bone cysts								32	85					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256018	240256018	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr1:240256018C>T	ENST00000319653.9	+	1	839	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	203	Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.I346M(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCAGGCGATCCGCCTgcagc	0.627000													4	35					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099133	111099133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:111099133C>A	ENST00000356742.5	-	3	895	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	HVCN1_ENST00000439744.2_Nonsense_Mutation_p.E28*|HVCN1_ENST00000242607.8_Nonsense_Mutation_p.E48*|HVCN1_ENST00000548312.1_Nonsense_Mutation_p.E48*			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	48	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tcctcctcttcattctccCAT	0.607000													9	25					0.000274275	0.000293322	1	1	0
FOLR4	390243	broad.mit.edu	37	11	94040769	94040769	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:94040769G>A	ENST00000440961.2	+	4	687	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	222						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CAATGTGGCCGTGGCCCGCCT	0.597000													47	162					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536001	166536001	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:166536001C>T	ENST00000314499.7	+	7	1872	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	CSRNP3_ENST00000342316.4_Missense_Mutation_p.S499F|CSRNP3_ENST00000409420.1_Missense_Mutation_p.S531F	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	499					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCCAACCCCTCTGTAATCGTT	0.522000													14	24					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151873	151151873	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr6:151151873G>C	ENST00000367328.1	+	16	1938	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.L542F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	542					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)		GGCAAGCCTTGTTTCCCAGCC	0.512000													6	39					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21281095	21281095	+	Silent	SNP	C	C	T			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr19:21281095C>T	ENST00000596143.1	+	3	346	c.21C>T	c.(19-21)aaC>aaT	p.N7N	ZNF714_ENST00000291770.7_Silent_p.N7N|ZNF714_ENST00000596053.1_Silent_p.N7N|ZNF714_ENST00000601416.1_Silent_p.N7N	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TGTTAGAGAACTACAAAAACC	0.363000													11	75					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107665	168107665	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr2:168107665T>A	ENST00000409195.1	+	9	9852	c.9763T>A	c.(9763-9765)Tct>Act	p.S3255T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3033T|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3255T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3080					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTCAGAGAATCTGTGGACGC	0.423000													7	57					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102064187	102064187	+	Splice_Site	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr12:102064187G>C	ENST00000549145.1	+	24	2731	c.2631_splice	c.e24+1	p.Q877_splice	MYBPC1_ENST00000547405.1_Splice_Site_p.Q820_splice|MYBPC1_ENST00000545503.2_Splice_Site_p.Q846_splice|MYBPC1_ENST00000541119.1_Splice_Site_p.Q834_splice|MYBPC1_ENST00000441232.1_Splice_Site_p.Q864_splice|MYBPC1_ENST00000536007.1_Splice_Site_p.Q827_splice|MYBPC1_ENST00000553190.1_Splice_Site_p.Q846_splice|MYBPC1_ENST00000392934.3_Splice_Site_p.Q833_splice|MYBPC1_ENST00000551300.1_Splice_Site_p.Q747_splice|MYBPC1_ENST00000361685.2_Splice_Site_p.Q871_splice|MYBPC1_ENST00000361466.2_Splice_Site_p.Q871_splice|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Splice_Site_p.Q864_splice|MYBPC1_ENST00000547509.1_Splice_Site_p.Q832_splice|MYBPC1_ENST00000360610.2_Splice_Site_p.Q864_splice|MYBPC1_ENST00000452455.2_Splice_Site_p.Q864_splice			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	864	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TACCTTTCCAGGTAAGAGTTC	0.438000													24	77					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51855808	51855808	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:51855808T>C	ENST00000581310.1	-	8	761	c.388A>G	c.(388-390)Aaa>Gaa	p.K130E	STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.K130E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	130	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TCCACACTTTTAGCTAAGAGA	0.313000													40	44					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9204504	9204504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr18:9204504G>A	ENST00000262126.3	+	4	506	c.266G>A	c.(265-267)tGg>tAg	p.W89*	ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	89						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTGAAAATTGGGGGGAGAGA	0.383000													3	37					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20074763	20074763	+	Silent	SNP	A	A	G	rs150784341	byFrequency	TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr8:20074763A>G	ENST00000276390.2	+	12	1234	c.1194A>G	c.(1192-1194)ctA>ctG	p.L398L		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	398					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TGCCCTCACTATCACGGTTAA	0.373000													19	94					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114059	57114059	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:57114059C>G	ENST00000263314.2	+	2	195	c.161C>G	c.(160-162)aCa>aGa	p.T54R		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	54					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTACGGGACACAGCCATTGAG	0.537000													6	32					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939048	67939048	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr11:67939048G>C	ENST00000304363.4	-	7	1135	c.782C>G	c.(781-783)gCt>gGt	p.A261G	SUV420H1_ENST00000402185.2_Missense_Mutation_p.A238G|SUV420H1_ENST00000405515.1_Missense_Mutation_p.A261G|SUV420H1_ENST00000402789.1_Missense_Mutation_p.A261G|SUV420H1_ENST00000401547.2_Missense_Mutation_p.A261G	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	261	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCAGAGTTGAGCACAGTTTTT	0.463000													19	28					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667421	133667421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr3:133667421delT	ENST00000310926.4	-	8	1337	c.1064delA	c.(1063-1065)agfs	p.K355fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Del_p.K279fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	355					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCATACTGCTTCTCCAGGAA	0.597													47	175	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176639004	176639004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr5:176639004delG	ENST00000439151.2	+	5	3649	c.3604delG	c.(3604-3606)agfs	p.E1202fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.E1099fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E933fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E933fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1202					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGGGCGGGATGAGTTTCCAGA	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	19	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													5	6	---	---	---	---					
DNM1	1759	broad.mit.edu	37	9	130982587	130982587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr9:130982587delG	ENST00000341179.7	+	6	908	c.816delG	c.(814-816)atfs	p.M272fs	DNM1_ENST00000475805.1_Frame_Shift_Del_p.M272fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.M272fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.M272fs|DNM1_ENST00000486160.1_Frame_Shift_Del_p.M272fs	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	272					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTGACCGTATGGGCACGCCCT	0.522													53	39	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21558826	21558828	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-HD-7917-01A-11D-2229-08	TCGA-HD-7917-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451948c9-3d16-4771-b006-28b98580db2c	778ebe8c-c5a3-48df-b092-2bff7b95c8ba	g.chr14:21558826_21558828delGGG	ENST00000360947.3	-	5	2447_2449	c.2036_2038delCCC	c.(2035-2040)cag>c	p.PQ679del	ZNF219_ENST00000451119.2_In_Frame_Del_p.PQ679del|ZNF219_ENST00000421093.2_In_Frame_Del_p.PQ679del|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	679					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCGTCAGCCTGGGGTGGCCGGCG	0.700													15	34	---	---	---	---					
