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
ZNF721	170960	broad.mit.edu	37	4	436033	436033	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:436033G>A	ENST00000338977.5	-	2	2235	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.N741N|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTATATTCGTTCAGGTTTG	0.388000													9	21					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620349	15620349	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:15620349C>T	ENST00000464847.2	+	5	1864	c.1311C>T	c.(1309-1311)ccC>ccT	p.P437P	ZNF286A_ENST00000593105.1_Silent_p.P427P|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.P437P|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.P437P|ZNF286A_ENST00000413242.2_Silent_p.P437P			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGAGAAACCCTATGAGTGTA	0.388000													21	31					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844894	18844894	+	RNA	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:18844894C>A	ENST00000412938.1	+	0	3144																											GGAAATACAGCTTCAGCGTGC	0.577000													16	7					4.7546e-09	5.38331e-09	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109696372	109696372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:109696372G>T	ENST00000465301.2	+	3	2773	c.2527G>T	c.(2527-2529)Gga>Tga	p.G843*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G843*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	843										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCCATCTCTGGAGCAATGTC	0.517000													98	53					3.57987e-33	4.71579e-33	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29600957	29600957	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:29600957G>A	ENST00000431530.3	+	1	2210	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	708	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAGCCAAGGGTCTTCAGTTC	0.493000													19	23					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568901	114568901	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:114568901G>T	ENST00000375475.5	+	3	365	c.267G>T	c.(265-267)gaG>gaT	p.E89D	NXPE2_ENST00000389586.4_Missense_Mutation_p.E89D					neurexophilin and PC-esterase domain family, member 2																		ACATTATGGAGAAACTAGACC	0.458000													21	25					3.62473e-10	4.20838e-10	1	1	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000													10	56					0.010729	0.0109692	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30372816	30372816	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:30372816C>T	ENST00000327564.7	+	8	2363	c.2302C>T	c.(2302-2304)Ctg>Ttg	p.L768L	LRRC37B_ENST00000584368.1_Silent_p.L702L|LRRC37B_ENST00000543378.2_Silent_p.L659L|LRRC37B_ENST00000341671.7_Silent_p.L741L|LRRC37B_ENST00000394713.3_Silent_p.L690L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	741						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CACTGCATGTCTGACTAACAG	0.358000													33	159					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007741	124007741	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:124007741G>T	ENST00000456829.2	+	15	1896	c.1645G>T	c.(1645-1647)Gct>Tct	p.A549S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A549S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	549										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCACCGCCTTGCTGCCAAGTC	0.453000													23	48					4.26978e-12	5.0866e-12	1	1	0
POTEH	23784	broad.mit.edu	37	22	16267045	16267045	+	Silent	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:16267045T>C	ENST00000343518.6	-	9	1455	c.1404A>G	c.(1402-1404)gaA>gaG	p.E468E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	468										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGTCAGGTTTTCTGGGAATC	0.403000													48	260					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806912	143806912	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:143806912G>T	ENST00000408979.2	+	1	306	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTTCCCAAGATGTTGGCAA	0.433000													35	221					6.97489e-18	8.6869e-18	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120584869	120584869	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:120584869A>C	ENST00000300648.6	-	38	4946	c.4934T>G	c.(4933-4935)cTg>cGg	p.L1645R		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1645					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGTCTGTCAGGGAGTACAT	0.557000													8	13					0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711204	38711204	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567000													12	45					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941472	22941472	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22941472A>G	ENST00000397104.3	-	5	965	c.966T>C	c.(964-966)acT>acC	p.T322T	ZNF99_ENST00000596209.1_Silent_p.T413T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTTATGTACAGTAAGTTTTG	0.363000													26	43					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262471	16262471	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:16262471A>C	ENST00000375759.3	+	11	9940	c.9736A>C	c.(9736-9738)Acc>Ccc	p.T3246P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3246	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccccacccccacccctgcccc	0.662000													3	6					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485312	36485312	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:36485312C>A	ENST00000342292.4	-	11	4160	c.4140G>T	c.(4138-4140)ccG>ccT	p.P1380P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1380						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCAGGGACACGGCTCTGCCT	0.597000													28	90					2.41591e-17	2.9818e-17	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155252510	155252510	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:155252510C>T	ENST00000392825.3	+	10	1731	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.V388V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	388						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGGTGTTGTCAAAGTGGATT	0.353000													9	29					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042664	5042664	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:5042664G>A	ENST00000574788.1	+	22	3423	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	USP6_ENST00000304328.5_Missense_Mutation_p.R81Q|USP6_ENST00000250066.6_Missense_Mutation_p.R398Q|USP6_ENST00000332776.4_Missense_Mutation_p.R398Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGTTCCAGCGGCCCATTTGC	0.657000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	44					0	0	1	0	0
RBPMS	11030	broad.mit.edu	37	8	30402239	30402239	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:30402239C>A	ENST00000520191.1	+	6	744	c.314C>A	c.(313-315)gCt>gAt	p.A105D	RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.A209D|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520161.1_Intron			Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		ACCTATCCAGCTAACAGATCC	0.478000													15	22					1.05317e-09	1.21247e-09	1	1	0
SPG20	23111	broad.mit.edu	37	13	36909740	36909740	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:36909740C>A	ENST00000451493.1	-	2	445	c.228G>T	c.(226-228)caG>caT	p.Q76H	SPG20_ENST00000438666.2_Missense_Mutation_p.Q76H|SPG20_ENST00000494062.2_Missense_Mutation_p.Q76H|SPG20_ENST00000355182.4_Missense_Mutation_p.Q76H|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	76	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTGTTGCATCTGTCTAGCAG	0.453000													45	44					3.77016e-25	4.91916e-25	1	1	0
PARP12	64761	broad.mit.edu	37	7	139737556	139737556	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:139737556T>C	ENST00000263549.3	-	7	2156	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	428	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCCTGGAACTTCAAGGTGGC	0.602000													16	37					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804723	54804723	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:54804723C>G	ENST00000306858.7	+	5	1070	c.954C>G	c.(952-954)agC>agG	p.S318R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	318										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTGTTTCCAGCCAGAGAAACC	0.388000													25	53					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067946	190067946	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:190067946C>T	ENST00000367462.3	-	8	1734	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L399L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		501						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCGTTTTCTGCAGCAGATATT	0.502000													30	117					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81282115	81282115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:81282115C>T	ENST00000261758.4	-	1	104	c.18G>A	c.(16-18)tgG>tgA	p.W6*		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	6	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CCTTGCGCGCCCACCTGGAAG	0.711000													3	11					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37733572	37733572	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:37733572C>T	ENST00000589413.1	+	8	1017	c.434C>T	c.(433-435)cCt>cTt	p.P145L	ZNF383_ENST00000352998.3_Missense_Mutation_p.P145L|ZNF383_ENST00000590503.1_Missense_Mutation_p.P145L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATTCACTCCTGAATACATG	0.368000													26	50					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90043678	90043678	+	RNA	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:90043678G>C	ENST00000462693.1	+	0	72																											TAATGCTCTGGGTCCCTGGTG	0.542000													3	11					0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76910800	76910800	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:76910800A>G	ENST00000542569.1	+	2	617	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SAMD8_ENST00000372687.3_Missense_Mutation_p.I172V|SAMD8_ENST00000372690.3_Missense_Mutation_p.I235V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	172					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CATTATGGTTATAGTCCATGA	0.368000													15	47					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432611	50432611	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:50432611C>A	ENST00000442544.2	+	3	1226	c.610C>A	c.(610-612)Ccg>Acg	p.P204T	DCC_ENST00000412726.1_Missense_Mutation_p.P52T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	204	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGACTCCAACCGGGGGACAT	0.502000													9	19					0.00448238	0.00461719	1	1	0
ST8SIA2	8128	broad.mit.edu	37	15	93007600	93007600	+	Silent	SNP	C	C	T	rs113311093		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:93007600C>T	ENST00000268164.3	+	6	1350	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C	ST8SIA2_ENST00000539113.1_Silent_p.C350C	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	371					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCGGCCAGTGCGATGGGGCCA	0.597000													26	59					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113556	66113556	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:66113556C>G	ENST00000311181.4	-	2	1358	c.1212G>C	c.(1210-1212)ttG>ttC	p.L404F		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	404					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ACTTGGCCTTCAACTCCTGTT	0.512000													24	155					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38567994	38567994	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:38567994C>T	ENST00000399017.2	+	42	7983	c.5236C>T	c.(5236-5238)Cct>Tct	p.P1746S	TTC3_ENST00000355666.1_Missense_Mutation_p.P1746S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1746S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1746					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CGAGTTACTCCCTGAGTCTTC	0.532000													40	201					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131301	110131301	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:110131301G>T	ENST00000518632.1	+	3	1165	c.814G>T	c.(814-816)Gta>Tta	p.V272L	TRHR_ENST00000311762.2_Missense_Mutation_p.V272L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	272						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGCAGTGGTTGTAATTCTGTT	0.413000													192	175					1.42079e-92	1.88979e-92	1	1	0
AGAP2-AS1	100130776	broad.mit.edu	37	12	58121034	58121034	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:58121034G>A	ENST00000542466.2	+	2	395	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	AGAP2_ENST00000257897.3_Intron|AGAP2_ENST00000547588.1_Intron																							GGGATCAACGGAAAAGGCTCT	0.652000													3	28					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152276855	152276855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:152276855C>T	ENST00000243326.4	+	6	1138	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	RIF1_ENST00000433166.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q219*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	219					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAAACAGCAAGAAATAGC	0.413000													15	29					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67786666	67786666	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:67786666A>G	ENST00000335894.4	+	20	2998	c.2932A>G	c.(2932-2934)Ata>Gta	p.I978V	IQCH_ENST00000360277.4_Missense_Mutation_p.N618S|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.I635V|IQCH_ENST00000358767.3_Missense_Mutation_p.N693S	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	978										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCATCAAGAAATATCAGCACC	0.398000													8	30					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637082	248637082	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637082G>T	ENST00000359594.2	+	1	456	c.431G>T	c.(430-432)aGg>aTg	p.R144M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAACCAGAGGGTGTGCCAG	0.552000													8	41					4.68919e-08	5.1808e-08	1	1	0
CDH10	1008	broad.mit.edu	37	5	24505331	24505331	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:24505331A>T	ENST00000264463.4	-	8	1790	c.1283T>A	c.(1282-1284)cTt>cAt	p.L428H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	428	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTCTGTCAAGGTCAGTATG	0.358000										HNSCC(23;0.051)			34	47					0	0	1	0	0
MIR527	574497	broad.mit.edu	37	19	54257333	54257333	+	RNA	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:54257333C>G	ENST00000385244.1	+	0	62					NR_030219.1																						AAAGTGCTTCCCTTTGGTGAA	0.443000													24	111					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890213	159890213	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:159890213G>A	ENST00000368097.4	-	2	397	c.87C>T	c.(85-87)atC>atT	p.I29I	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.I50I|TAGLN2_ENST00000320307.4_Silent_p.I29I	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	29	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGATCAGGATCTGCTCCA	0.582000													12	44					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358379	53358379	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:53358379A>G	ENST00000566029.1	+	39	8427	c.8218A>G	c.(8218-8220)Agg>Ggg	p.R2740G	CHD9_ENST00000398510.3_Missense_Mutation_p.R2756G|CHD9_ENST00000447540.1_Missense_Mutation_p.R2741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R2740G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2756					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAAACAGAAAGGACAGAGAG	0.463000													15	33					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209236	53209236	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:53209236G>A	ENST00000543227.1	-	6	1346	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ZNF611_ENST00000540744.1_Missense_Mutation_p.L358F|ZNF611_ENST00000595798.1_Missense_Mutation_p.L289F|ZNF611_ENST00000602162.1_Missense_Mutation_p.L289F|ZNF611_ENST00000453741.2_Missense_Mutation_p.L289F|ZNF611_ENST00000319783.1_Missense_Mutation_p.L358F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGATGTGAAAGTTGTGATTGT	0.343000													9	71					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62921091	62921091	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:62921091A>G	ENST00000251157.5	-	49	6417	c.6384T>C	c.(6382-6384)gaT>gaC	p.D2128D	DOCK7_ENST00000340370.5_Silent_p.D2108D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2139					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGTTTAGAGATCCATTTTGC	0.348000													19	27					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10049172	10049172	+	RNA	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:10049172C>G	ENST00000383808.2	-	0	826																											ATTGGCCTTTCTGCTTCGATG	0.582000													33	64					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123095404	123095404	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:123095404A>G	ENST00000333479.7	+	53	5756	c.5579A>G	c.(5578-5580)tAt>tGt	p.Y1860C	KNTC1_ENST00000450485.2_Missense_Mutation_p.Y785C|KNTC1_ENST00000537348.1_Missense_Mutation_p.Y285C|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1860					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAATTGATTATAGTTCAAGA	0.328000													15	34					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903847	38903847	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:38903847C>T	ENST00000454404.2	-	11	1513	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	RASGRP4_ENST00000426920.2_Missense_Mutation_p.E279K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E399K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E371K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E454K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.E468K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E376K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	468					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCAGCTGCTCCACATGCCGA	0.667000													13	20					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50334077	50334077	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:50334077G>T	ENST00000312865.6	+	9	1087	c.1034G>T	c.(1033-1035)aGt>aTt	p.S345I	MED25_ENST00000538643.1_Missense_Mutation_p.S132I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCCAGCCCAGTCTGGTCTCC	0.726000													24	42					1.10923e-09	1.26637e-09	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134147162	134147162	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:134147162C>T	ENST00000392638.2	+	2	329	c.134C>T	c.(133-135)tCc>tTc	p.S45F	LRRC27_ENST00000368615.3_Missense_Mutation_p.S45F|LRRC27_ENST00000368614.3_Missense_Mutation_p.S45F|LRRC27_ENST00000368613.4_Missense_Mutation_p.S45F|LRRC27_ENST00000344079.5_Missense_Mutation_p.S45F|LRRC27_ENST00000356571.4_Missense_Mutation_p.S45F			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	45										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATCATCTTTTCCTCCTCACCG	0.542000													6	33					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3921231	3921231	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:3921231T>A	ENST00000381638.2	-	47	7664	c.7540A>T	c.(7540-7542)Ata>Tta	p.I2514L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2514							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGACCGTATCCTTTCATCT	0.507000													11	41					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318540	48318540	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:48318540A>G	ENST00000435803.1	+	18	7773	c.7749A>G	c.(7747-7749)acA>acG	p.T2583T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2583					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCATTTCACATTTGAAAAGA	0.308000													23	55					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6986506	6986506	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:6986506C>T	ENST00000381309.3	+	11	2082	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	KDM4C_ENST00000535193.1_Missense_Mutation_p.S528L|KDM4C_ENST00000381306.3_Missense_Mutation_p.S506L|KDM4C_ENST00000536108.1_Missense_Mutation_p.S325L|KDM4C_ENST00000543771.1_Missense_Mutation_p.S506L|KDM4C_ENST00000428870.2_Missense_Mutation_p.S193L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S325L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	506					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCCGAGCTTTCATGGCCAAAG	0.478000													27	31					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409370	59409370	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:59409370G>T	ENST00000301645.3	-	3	838	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	234					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTCTCCCGGGCATTGTGCGC	0.488000									Neonatal Giant Cell Hepatitis				33	103					2.85442e-18	3.58766e-18	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067951	190067951	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:190067951G>T	ENST00000367462.3	-	8	1729	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L398M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		500						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCTGCAGCAGATATTTCATC	0.493000													29	112					2.4375e-19	3.09201e-19	1	1	0
POMC	5443	broad.mit.edu	37	2	25387568	25387568	+	Missense_Mutation	SNP	C	C	A	rs143923583	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:25387568C>A	ENST00000405623.1	-	2	529	c.74G>T	c.(73-75)cGt>cTt	p.R25L	POMC_ENST00000264708.3_Missense_Mutation_p.R25L|POMC_ENST00000395826.2_Missense_Mutation_p.R25L|POMC_ENST00000380794.1_Missense_Mutation_p.R25L			P01189	COLI_HUMAN	proopiomelanocortin	25					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCACCAGCCACGCACTTCCAT	0.612000													26	60					7.92952e-12	9.36504e-12	1	1	0
ZNF98	148198	broad.mit.edu	37	19	22574948	22574948	+	Silent	SNP	G	G	T	rs74170714		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22574948G>T	ENST00000357774.5	-	4	1210	c.1089C>A	c.(1087-1089)tcC>tcA	p.S363S		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAGTAAGGTGGGATAACCGGC	0.388000													4	57					1	1	1	1	0
FAM53B	9679	broad.mit.edu	37	10	126370453	126370453	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:126370453G>C	ENST00000337318.3	-	4	840	c.629C>G	c.(628-630)aCc>aGc	p.T210S	FAM53B_ENST00000392754.3_Missense_Mutation_p.T210S|FAM53B_ENST00000280780.6_Missense_Mutation_p.T210S|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	210										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGGCTCCAGGTGTCACCTGC	0.642000													3	15					0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62450518	62450518	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:62450518C>G	ENST00000301998.4	+	2	1415	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S388C	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	388						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATATTTGGTCTCAGTTGCAG	0.323000													7	37					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41514424	41514424	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:41514424G>A	ENST00000402904.2	-	11	1582	c.1214C>T	c.(1213-1215)gCt>gTt	p.A405V	SCMH1_ENST00000372597.1_Missense_Mutation_p.A358V|SCMH1_ENST00000337495.5_Missense_Mutation_p.A415V|SCMH1_ENST00000326197.7_Missense_Mutation_p.A405V|SCMH1_ENST00000372595.1_Missense_Mutation_p.A344V|SCMH1_ENST00000361705.3_Missense_Mutation_p.A358V|SCMH1_ENST00000361191.5_Missense_Mutation_p.A344V|SCMH1_ENST00000397174.2_Missense_Mutation_p.A385V|SCMH1_ENST00000456518.2_Missense_Mutation_p.A247V|SCMH1_ENST00000397171.2_Missense_Mutation_p.A344V|SCMH1_ENST00000372596.1_Missense_Mutation_p.A344V	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	405					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGGTGATAAGCACAGTCGAT	0.522000													58	67					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481413	56481413	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:56481413A>T	ENST00000267101.3	+	5	1040	c.600A>T	c.(598-600)gaA>gaT	p.E200D	ERBB3_ENST00000415288.2_Missense_Mutation_p.E141D|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	200					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGATCAGAAGACTGCCAGA	0.552000													18	59					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118584559	118584559	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:118584559T>C	ENST00000336338.5	-	21	2986	c.2921A>G	c.(2920-2922)aAc>aGc	p.N974S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	974						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTCTGCGTTATCCTTGCC	0.393000													95	205					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990803	140990803	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:140990803T>A	ENST00000389484.3	-	91	14723	c.13752A>T	c.(13750-13752)gaA>gaT	p.E4584D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4584					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGAAGCAGTTCTTTCCTTT	0.328000										TSP Lung(27;0.18)			5	49					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078616	21078616	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:21078616A>G	ENST00000261383.3	-	24	3505	c.3506T>C	c.(3505-3507)cTa>cCa	p.L1169P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1169P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1169	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGAAGAATAGTCTCTTCTT	0.438000													18	27					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184626159	184626159	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:184626159C>A	ENST00000334690.6	+	27	3193	c.2991C>A	c.(2989-2991)atC>atA	p.I997I	TRAPPC11_ENST00000357207.4_Silent_p.I997I|TRAPPC11_ENST00000512476.1_Silent_p.I603I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	997																	ATATCCCCATCATCACAACTG	0.393000													40	86					2.35958e-20	3.02115e-20	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53421763	53421763	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:53421763G>C	ENST00000377942.3	-	1	1012	c.809C>G	c.(808-810)gCa>gGa	p.A270G	PCDH8_ENST00000338862.4_Missense_Mutation_p.A270G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	270	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGGTCGGCTGCGTCCAGGTC	0.711000													4	4					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118905597	118905597	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:118905597A>T	ENST00000264234.3	+	2	158	c.9A>T	c.(7-9)aaA>aaT	p.K3N	UPK1B_ENST00000460625.1_Missense_Mutation_p.K3N|RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000497685.1_Intron	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	3					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGATGGCCAAAGACAACTCAA	0.418000													27	29					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651317	8651317	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:8651317C>T	ENST00000270328.4	-	20	2707	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R301H|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R814H			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	814	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCATTGAAGCGGTAGCGGAG	0.667000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	20					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50935734	50935734	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:50935734T>C	ENST00000313478.7	-	5	619	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y113C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	113					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTGGTGTCATATGATAGCCT	0.338000													16	63					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57897498	57897498	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr20:57897498G>C	ENST00000311585.7	+	4	984	c.614G>C	c.(613-615)tGt>tCt	p.C205S	EDN3_ENST00000371028.2_Intron|EDN3_ENST00000337938.2_Intron|EDN3_ENST00000395654.3_Intron|EDN3_ENST00000371025.3_Intron	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	0					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AGAGGCCTGTGTCAAAGGAGG	0.517000													13	32					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3601102	3601102	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:3601102T>C	ENST00000302006.3	+	4	1443	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	464						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAGCTCTCTGGCCCCGCAG	0.662000													14	44					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574951	22574951	+	Missense_Mutation	SNP	T	T	G	rs74170714		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22574951T>G	ENST00000357774.5	-	4	1207	c.1086A>C	c.(1084-1086)ttA>ttC	p.L362F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAGGTGGGATAACCGGCTAA	0.393000													4	64					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2832027	2832027	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:2832027T>C	ENST00000602557.1	-	57	9244	c.8689A>G	c.(8689-8691)Acg>Gcg	p.T2897A	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2839A|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2839A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2838A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2896A|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2897A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2897	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACTCTCGTGTCGTTGCCT	0.572000													8	8					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187179174	187179174	+	Splice_Site	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:187179174G>T	ENST00000264690.6	+	15	1912		c.e15-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGTGACTCAGGGAGATTCAG	0.478000													22	44					2.98393e-07	3.27039e-07	1	1	0
ZNF404	342908	broad.mit.edu	37	19	44377455	44377455	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:44377455C>T	ENST00000587539.1	-	3	910	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C302Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GGCCTTTTCACATTGTTCACA	0.368000													17	22					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328847	88328847	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:88328847G>T	ENST00000325089.6	+	2	1423	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	402	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGAGCATCGCTGAACTGCA	0.567000													18	19					1.67942e-08	1.8859e-08	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182317	140182317	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:140182317C>A	ENST00000522353.2	+	1	1535	c.1535C>A	c.(1534-1536)gCg>gAg	p.A512E	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706000													38	50					1.06647e-15	1.30452e-15	1	1	0
ARMC9	80210	broad.mit.edu	37	2	232079577	232079577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:232079577C>T	ENST00000349938.4	+	4	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	71							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAACGGAGACCAGAAGGTGTT	0.463000													5	35					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637083	248637083	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637083G>T	ENST00000359594.2	+	1	457	c.432G>T	c.(430-432)agG>agT	p.R144S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAACCAGAGGGTGTGCCAGC	0.552000													8	41					4.68919e-08	5.1808e-08	1	1	0
PLCL2	23228	broad.mit.edu	37	3	17052602	17052602	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:17052602A>C	ENST00000418129.2	+	2	1851	c.1386A>C	c.(1384-1386)gaA>gaC	p.E462D	PLCL2_ENST00000432376.1_Missense_Mutation_p.E462D|PLCL2_ENST00000396755.2_Missense_Mutation_p.E462D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	588	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACGAAGATGAAGGAGCAGAAA	0.433000													36	24					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509694	171509694	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:171509694G>T	ENST00000367742.3	+	16	3331	c.3089G>T	c.(3088-3090)cGg>cTg	p.R1030L	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1028L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.R1028L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1030L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1028							protein C-terminus binding										AAAGAGGAACGGGAACAGAGG	0.433000													6	27					0.00198382	0.00205896	1	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798612	119798612	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:119798612C>T	ENST00000355624.3	-	3	1575	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G379E|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	379					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GCTATCAGATCCCCCATTGTT	0.353000													23	101					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936506	150936506	+	Silent	SNP	G	G	A	rs139287814		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:150936506G>A	ENST00000392811.2	-	13	1809	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	SMARCD3_ENST00000356800.2_Silent_p.A445A|SMARCD3_ENST00000262188.8_Silent_p.A458A	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	458					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGACTGACGGCCTCCTGGG	0.612000													22	54					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47584838	47584838	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:47584838T>C	ENST00000253048.5	-	11	1409	c.1372A>G	c.(1372-1374)Atc>Gtc	p.I458V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	458							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACCATTGATGCAGTTCCCA	0.547000													14	41					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40695399	40695399	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40695399C>T	ENST00000589109.1	-	1	257	c.86G>A	c.(85-87)gGg>gAg	p.G29E	RIT2_ENST00000282028.4_Missense_Mutation_p.G29E|RIT2_ENST00000326695.5_Missense_Mutation_p.G29E|RIT2_ENST00000590910.1_Missense_Mutation_p.G29E	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	29					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAACTCCCCCTGCTCCCAG	0.512000													23	199					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505981	178505981	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:178505981T>C	ENST00000315475.6	+	5	854	c.548T>C	c.(547-549)aTa>aCa	p.I183T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGTGTTCCTATAGAAAGGATA	0.358000													29	43					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564173	37564173	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:37564173G>A	ENST00000300651.6	-	17	4524	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1434	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGATGAGTGGAGAGCCATA	0.488000										HNSCC(31;0.082)			24	67					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227672	49227672	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:49227672A>G	ENST00000340334.7	-	3	494	c.126T>C	c.(124-126)aaT>aaC	p.N42N	FOLH1_ENST00000256999.2_Silent_p.N57N|FOLH1_ENST00000533034.1_Silent_p.N42N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.N57N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	57					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATGCTTTCATATTATGCTTTG	0.323000													24	34					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522415	23522415	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:23522415C>G	ENST00000296682.3	+	7	693	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	171					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACCTAGAACTCAGGAAGAA	0.433000										HNSCC(3;0.000094)			33	118					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35726367	35726367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:35726367C>T	ENST00000382034.5	+	9	934	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q227*|TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q232*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q220*|TOM1_ENST00000411850.1_Nonsense_Mutation_p.Q265*|TOM1_ENST00000449058.2_Nonsense_Mutation_p.Q265*			O60784	TOM1_HUMAN	target of myb1 (chicken)	265					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGAGCCATGCAGCAGCGGGT	0.542000													36	92					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421091	116421091	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:116421091T>C	ENST00000281928.3	-	21	4992	c.4786A>G	c.(4786-4788)Att>Gtt	p.I1596V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1596	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCTGGCTAATACCAGGAGCA	0.512000													15	47					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807417	22807417	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:22807417G>C	ENST00000361524.3	-	4	613	c.465C>G	c.(463-465)ttC>ttG	p.F155L	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.F155L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	155					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTGTGTTTGAACAGCCTAC	0.498000			T	PAX5	ALL								25	66					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19022940	19022940	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:19022940A>G	ENST00000379878.3	-	22	2090	c.1849T>C	c.(1849-1851)Tat>Cat	p.Y617H	GPR64_ENST00000360279.4_Missense_Mutation_p.Y611H|GPR64_ENST00000354791.3_Missense_Mutation_p.Y617H|GPR64_ENST00000379869.3_Missense_Mutation_p.Y633H|GPR64_ENST00000379873.2_Missense_Mutation_p.Y633H|GPR64_ENST00000356606.4_Missense_Mutation_p.Y619H|GPR64_ENST00000379876.1_Missense_Mutation_p.Y609H|GPR64_ENST00000357544.3_Missense_Mutation_p.Y603H|GPR64_ENST00000357991.3_Missense_Mutation_p.Y630H|GPR64_ENST00000340581.3_Missense_Mutation_p.Y514H	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	633	GPS.				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAACCAATATATGTAATGAAC	0.358000													37	86					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428218	74428218	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:74428218T>A	ENST00000334571.2	+	10	1195	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.D310E|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.D360E|COQ6_ENST00000557780.1_3'UTR	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	385					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTTTGGGGATATCTCCAGCT	0.512000													14	33					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44605082	44605082	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:44605082A>G	ENST00000266534.3	+	5	647	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	TMEM117_ENST00000536799.1_Missense_Mutation_p.M70V|TMEM117_ENST00000551577.1_Missense_Mutation_p.M174V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	174						endoplasmic reticulum|integral to membrane		p.M174L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGTCACTGATATGATGCTTCA	0.353000													14	67					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671678	92671678	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:92671678A>T	ENST00000318445.6	+	7	1685	c.1471A>T	c.(1471-1473)Atc>Ttc	p.I491F	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.I491F	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	491	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCAGATGGCATCACCTACCT	0.567000													26	66					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547902	43547902	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:43547902C>A	ENST00000400427.1	+	19	4215	c.3819C>A	c.(3817-3819)ctC>ctA	p.L1273L	UMODL1_ENST00000408989.2_Silent_p.L1345L|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Silent_p.L1145L|UMODL1_ENST00000408910.2_Silent_p.L1217L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1217						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTGCAAACTCCGCGTCTGCA	0.468000													8	39					2.17888e-05	2.35044e-05	1	1	0
PRKAA1	5562	broad.mit.edu	37	5	40767661	40767661	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:40767661T>C	ENST00000397128.2	-	6	736	c.728A>G	c.(727-729)tAt>tGt	p.Y243C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.Y258C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	243	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTGAGGGGTATAGAAGATCCC	0.388000													23	89					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639150	7639150	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:7639150G>A	ENST00000359156.4	-	10	2605	c.2403C>T	c.(2401-2403)caC>caT	p.H801H	CD163_ENST00000432237.2_Silent_p.H801H|CD163_ENST00000541972.1_Silent_p.H789H|CD163_ENST00000396620.3_Silent_p.H834H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	801	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCCCAGCCGTGTGAATGGC	0.483000													52	131					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79898351	79898351	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:79898351G>C	ENST00000360280.3	+	30	3459	c.3199G>C	c.(3199-3201)Gat>Cat	p.D1067H	VPS13A_ENST00000376634.4_Missense_Mutation_p.D1067H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1067H|VPS13A_ENST00000376636.3_Intron	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1067					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTATTCAAGATCAGAAATG	0.254000													12	23					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511763	61511763	+	Silent	SNP	C	C	G	rs145101853		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:61511763C>G	ENST00000257215.5	+	20	3047	c.2931C>G	c.(2929-2931)gcC>gcG	p.A977A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCTCTTTGCCGGCTCAGCCG	0.677000													19	64					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72914167	72914167	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:72914167G>T	ENST00000322342.3	-	2	627	c.338C>A	c.(337-339)gCc>gAc	p.A113D	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	113						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGTGTATCTGGCACTAGCAGA	0.542000													30	60					3.1745e-13	3.81496e-13	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146825855	146825855	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:146825855T>G	ENST00000361727.3	+	7	1526	c.1010T>G	c.(1009-1011)aTg>aGg	p.M337R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	337	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGGCTGCATGGAAAGCATC	0.408000										HNSCC(39;0.1)			34	94					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850388	40850388	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40850388C>G	ENST00000255224.3	-	4	1564	c.1196G>C	c.(1195-1197)gGa>gCa	p.G399A	SYT4_ENST00000590752.1_Missense_Mutation_p.G381A|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCACCAGTTCCTTCTGCTGC	0.493000													21	269					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61432352	61432352	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:61432352A>G	ENST00000424789.2	+	12	1965	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	TANC2_ENST00000389520.4_Missense_Mutation_p.Y654C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	654							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAAGGGTCCTATCTATATCTG	0.388000													53	119					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													6	78					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60767596	60767596	+	Silent	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:60767596G>T	ENST00000303375.5	+	26	4224	c.3822G>T	c.(3820-3822)cgG>cgT	p.R1274R	MRC2_ENST00000446119.2_Silent_p.R140R	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1274	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TTCCCTTCCGGGAGCACTGCT	0.627000													11	17					0.000673444	0.000704289	1	1	0
DPP6	1804	broad.mit.edu	37	7	154585880	154585880	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:154585880C>G	ENST00000404039.1	+	11	1623	c.1036C>G	c.(1036-1038)Ctc>Gtc	p.L346V	DPP6_ENST00000377770.3_Missense_Mutation_p.L410V|DPP6_ENST00000332007.3_Missense_Mutation_p.L348V|DPP6_ENST00000427557.1_Missense_Mutation_p.L303V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	410					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATCCTCACCCTCTGCGACGC	0.657000													6	18					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169188752	169188752	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:169188752G>A	ENST00000393743.3	-	22	3311	c.3020C>T	c.(3019-3021)gCt>gTt	p.A1007V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1007							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTTAGTGCAGCACATGGGTG	0.289000													19	42					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								14	32					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545478	186545478	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:186545478C>A	ENST00000431808.1	-	14	1656	c.1093G>T	c.(1093-1095)Gca>Tca	p.A365S	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.A269S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.A465S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.A365S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	365						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATTTCTGCGTTTTGCCGG	0.522000													22	48					7.87624e-14	9.54908e-14	1	1	0
MID1	4281	broad.mit.edu	37	X	10535569	10535569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:10535569C>A	ENST00000317552.4	-	2	419	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	MID1_ENST00000380779.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E7*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E7*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	7					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGTCAGTTCTGACTCCAGT	0.493000													27	30					2.79863e-10	3.27703e-10	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114476737	114476737	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:114476737A>T	ENST00000245680.2	-	14	1903	c.1490T>A	c.(1489-1491)aTt>aAt	p.I497N	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	497					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTACCTCTGAATTCGATGTTT	0.333000													9	48					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132169702	132169702	+	Missense_Mutation	SNP	G	G	T	rs112214523	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:132169702G>T	ENST00000378539.5	-	5	1818	c.1442C>A	c.(1441-1443)gCg>gAg	p.A481E	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane		p.A481V(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCAATGTTCGCCCCAGGTGG	0.483000													33	55					9.78485e-24	1.26465e-23	1	1	0
KIF27	55582	broad.mit.edu	37	9	86518343	86518343	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:86518343T>G	ENST00000297814.2	-	4	1233	c.1090A>C	c.(1090-1092)Aaa>Caa	p.K364Q	KIF27_ENST00000413982.1_Missense_Mutation_p.K364Q|KIF27_ENST00000334204.2_Missense_Mutation_p.K364Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	364					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CGAAGCAATTTAATCTCAAAT	0.433000													30	85					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	by1000genomes	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000													3	31					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12414089	12414090	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:12414089_12414090delTC	ENST00000358136.3	+	47	9620_9621	c.9490_9491delTC	c.(9490-9492)tfs	p.S3164fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S3139fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3163					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACATATTTTCTGACAGTGCA	0.356													16	73	---	---	---	---					
CD28	940	broad.mit.edu	37	2	204591669	204591669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:204591669delC	ENST00000324106.7	+	2	515	c.366delC	c.(364-366)tafs	p.Y122fs	CD28_ENST00000458610.2_Frame_Shift_Del_p.Y136fs|CD28_ENST00000374481.3_Intron|CD28_ENST00000374478.4_Intron	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	122	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCTCCTTACCTAGACAATG	0.368													23	30	---	---	---	---					
MFSD7	84179	broad.mit.edu	37	4	678633	678634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:678633_678634insA	ENST00000322224.4	-	5	910_911	c.597_598insT	c.(595-600)taccatfs	p.H200fs	MFSD7_ENST00000404286.2_Frame_Shift_Ins_p.H200fs|MFSD7_ENST00000515118.1_Frame_Shift_Ins_p.H103fs|MFSD7_ENST00000503156.1_Frame_Shift_Ins_p.H136fs|MFSD7_ENST00000347950.5_Frame_Shift_Ins_p.H81fs			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	200					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GCAGGGATGGTATAGACACCGA	0.683													12	14	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32098603	32098604	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:32098603_32098604insACAA	ENST00000438447.1	+	23	8469_8470	c.8081_8082insACAA	c.(8080-8082)gcafs	p.A2694fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.A2694fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2694	PDZ 5.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCACCAGGCACAGCTGCACA	0.594													27	41	---	---	---	---					
CAPN11	11131	broad.mit.edu	37	6	44148689	44148702	+	Frame_Shift_Del	DEL	GGGCTTTGGCCTGG	GGGCTTTGGCCTGG	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:44148689_44148702delGGGCTTTGGCCTGG	ENST00000542245.1	+	18	1862_1875	c.1824_1837delGGGCTTTGGCCTGG	c.(1822-1839)aaatfs	p.KGFGLD608fs	CAPN11_ENST00000398776.1_Frame_Shift_Del_p.KGFGLD608fs			Q9UMQ6	CAN11_HUMAN	calpain 11	608	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAAGACCAAGGGCTTTGGCCTGGATGCTTGCCG	0.570													39	223	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113569097	113569119	+	Frame_Shift_Del	DEL	TGGTGCTACCAGCAAAGTGGCCT	TGGTGCTACCAGCAAAGTGGCCT	-	rs145750770	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	ENST00000297405.5	-	25	4351_4373	c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	c.(4105-4131)catcfs	p.QGHFAGSTI1369fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.QGHFAGSTI1265fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.QGHFAGSTI1369fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.QGHFAGSTI1329fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGA	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	45	---	---	---	---					
LGR4	55366	broad.mit.edu	37	11	27390526	27390527	+	Frame_Shift_Ins	INS	-	-	AGAAATCA			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:27390526_27390527insAGAAATCA	ENST00000379214.4	-	18	2186_2187	c.1743_1744insTGATTTCT	c.(1741-1746)tctgtcfs	p.V582fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.V558fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	582						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAGTTAGACACAGAAATCAAGC	0.386													13	49	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450500	23450506	+	Frame_Shift_Del	DEL	GCATCCG	GCATCCG	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:23450500_23450506delGCATCCG	ENST00000262713.2	-	1	1345_1351	c.970_976delCGGATGC	c.(970-978)ggfs	p.RMR324fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.RMR324fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	324	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TCTGGCTCCCGCATCCGGGCCCGGGCG	0.681													7	44	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25415736	25415736	+	RNA	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:25415736delC	ENST00000549301.1	+	0	250				SNHG14_ENST00000553149.1_RNA																							CGGCCAGTGTCCGTCTGCCAG	0.622													8	46	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28446658	28446659	+	Frame_Shift_Ins	INS	-	-	T	rs61756159	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:28446658_28446659insT	ENST00000261609.7	-	48	7767_7768	c.7659_7660insA	c.(7657-7662)aagagcfs	p.S2554fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2554					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R2554*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAATCAGCTCGTTTTTTGTACG	0.376													43	68	---	---	---	---					
VASN	114990	broad.mit.edu	37	16	4432380	4432381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:4432380_4432381insA	ENST00000304735.3	+	2	1657_1658	c.1502_1503insA	c.(1501-1503)ctcfs	p.L501fs	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	501	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TATCGCAACCTATCGGGCCCTG	0.668													11	18	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822585	72822586	+	Frame_Shift_Ins	INS	-	-	G	rs66799632		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:72822585_72822586insG	ENST00000268489.5	-	10	10261_10262	c.9589_9590insC	c.(9589-9591)gcafs	p.A3197fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.A2283fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3197	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658													37	134	---	---	---	---					
MYBBP1A	10514	broad.mit.edu	37	17	4447915	4447915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:4447915delC	ENST00000254718.4	-	19	2814	c.2508delG	c.(2506-2508)gtfs	p.V836fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.V836fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	836					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTGCTTGGTCACTAGCACCT	0.692													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577115	7577116	+	In_Frame_Ins	INS	-	-	AAC			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:7577115_7577116insAAC	ENST00000420246.2	-	8	954_955	c.822_823insGTT	c.(820-825)gtgtgc>gtGTTgtgc	p.274_275VC>VLC	TP53_ENST00000445888.2_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000455263.2_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000359597.4_In_Frame_Ins_p.274_275VC>VLC	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.0?(8)|p.C275G(7)|p.C275R(7)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GGACAGGCACAAACACGCACCT	0.550		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)			16	29	---	---	---	---