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
HEATR2	54919	broad.mit.edu	37	7	780561	780561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:780561G>A	ENST00000297440.6	+	3	906	c.886G>A	c.(886-888)Gac>Aac	p.D296N	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D296N	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	296							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TAGCCTCAACGACGAGGTGCC	0.622000													4	122					0	0	1	0	0
GPR180	160897	broad.mit.edu	37	13	95275437	95275437	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr13:95275437G>C	ENST00000376958.4	+	7	994	c.969G>C	c.(967-969)ggG>ggC	p.G323G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	323						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTAGCAGGGATCCTCCTAA	0.388000													19	161					0	0	1	0	0
CA5BP1	0	broad.mit.edu	37	X	15711150	15711150	+	RNA	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:15711150A>G	ENST00000380334.2	+	0	290																											CTGGAAGAAAATGGTTTGGCT	0.358000													3	97					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304913	67304913	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr16:67304913C>T	ENST00000299798.11	+	16	2556	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	831					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCCTCTCCACCTACCTTCTGA	0.657000													16	42					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617000													4	114					0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112054859	112054859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:112054859T>C	ENST00000473539.1	+	2	139	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CATCAATGATTACCAGGTAAT	0.393000													6	107					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18064731	18064731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:18064731G>A	ENST00000205890.5	+	57	9825	c.9487G>A	c.(9487-9489)Gtg>Atg	p.V3163M	MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M|MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3163	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCAAGACGTGAGCCGGAC	0.632000													12	130					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22273631	22273631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr8:22273631C>T	ENST00000381237.1	+	7	1104	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SLC39A14_ENST00000359741.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000289952.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.R329C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	329						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAAAGGTGTCCGCTACTCTGA	0.582000													4	66					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47315320	47315320	+	Splice_Site	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:47315320C>A	ENST00000377065.4	-	4	934	c.295_splice	c.e4+1	p.G99_splice	ZNF41_ENST00000313116.7_Splice_Site_p.G99_splice|ZNF41_ENST00000397050.2_Splice_Site_p.G109_splice|ZNF41_ENST00000465311.1_5'UTR	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	141	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCTCACTCACCTGAACAGCTC	0.522000													8	74					0.0477658	0.0485619	1	1	0
VPS18	57617	broad.mit.edu	37	15	41193044	41193044	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:41193044G>A	ENST00000220509.5	+	4	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	676					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647000													4	145					0	0	1	0	0
KRT16P2	0	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	by1000genomes	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:16734855C>T	ENST00000579062.1	-	0	460																		p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000													5	44					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:128840324C>T	ENST00000310343.9	-	22	4741	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552000													24	60					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16973238	16973238	+	Silent	SNP	C	C	T	rs150062565	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:16973238C>T	ENST00000379803.1	+	9	1148	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	SIN3B_ENST00000248054.5_Silent_p.S378S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	378	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCATGAGCGACAGATCCG	0.517000													4	95					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241683359	241683359	+	Splice_Site	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:241683359C>T	ENST00000498729.2	-	33	3830	c.3584_splice	c.e33+1	p.S1195_splice	KIF1A_ENST00000320389.7_Splice_Site_p.S1094_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1094					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCGCTAACCTGAGCACGTC	0.592000													10	75					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99456347	99456347	+	Missense_Mutation	SNP	A	A	G	rs45481994		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:99456347A>G	ENST00000268035.6	+	8	2275	c.1664A>G	c.(1663-1665)gAc>gGc	p.D555G	IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	555	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGACGTGGACCTCCCGCCC	0.537000													4	43					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													5	110					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30486368	30486368	+	Splice_Site	SNP	A	A	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr20:30486368A>C	ENST00000375938.4	+	4	459	c.206_splice	c.e4+1	p.D69_splice	TTLL9_ENST00000375921.2_Splice_Site_p.D19_splice|TTLL9_ENST00000310998.4_Splice_Site_p.D19_splice|TTLL9_ENST00000375934.4_Splice_Site_p.D51_splice|TTLL9_ENST00000375922.4_Splice_Site_p.D19_splice|TTLL9_ENST00000535842.1_Splice_Site_p.D69_splice			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	69	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGTGAAGGAGTAAGACCCT	0.562000													23	35					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016936	25016936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:25016936C>T	ENST00000400382.1	+	9	1387	c.632C>T	c.(631-633)cCg>cTg	p.P211L	GGT1_ENST00000400380.1_Missense_Mutation_p.P211L|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.P211L|GGT1_ENST00000400383.1_Missense_Mutation_p.P211L|GGT1_ENST00000406383.2_Missense_Mutation_p.P211L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	211					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGACCCTGCCGCAGCTGGCT	0.647000													3	50					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15943763	15943763	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:15943763G>C	ENST00000268712.3	-	43	6982	c.6725C>G	c.(6724-6726)aCt>aGt	p.T2242S	NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S|AC002553.1_ENST00000442828.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2242	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTGACGTAGTAACTGCTGG	0.358000													3	51					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276464	18276464	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:18276464A>G	ENST00000377369.2	+	7	1426	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	385					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATGCTGGGGACAGCGCTGGT	0.557000													7	86					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502163	91502163	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:91502163T>A	ENST00000266718.4	-	2	1048	c.594A>T	c.(592-594)agA>agT	p.R198S	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	198					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAGGCAGTCTGGCTATCT	0.423000													8	160					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959563	129959563	+	Silent	SNP	A	A	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:129959563A>T	ENST00000368149.2	-	3	616	c.528T>A	c.(526-528)gcT>gcA	p.A176A		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	176					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCTCTGTTGAGCAAATATGT	0.388000													5	106					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597000													10	33					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683779	100683779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:100683779C>T	ENST00000306151.4	+	3	9146	c.9082C>T	c.(9082-9084)Cct>Tct	p.P3028S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3028	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCCTCTCCTACAACTGC	0.527000													9	618					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201972432	201972432	+	Silent	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:201972432G>T	ENST00000295640.4	+	9	1537	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.G459G|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	498					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCCTGGGGACTCACTCA	0.562000													22	53					1.42536e-11	1.61012e-11	1	1	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													3	43					0.115264	0.115264	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								38	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			19	3					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707829	26707829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:26707829A>G	ENST00000529632.2	+	8	1973	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T593A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	593	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTGGAGTTCACCTGCGACCC	0.562000													84	170					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940087	76940087	+	Splice_Site	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:76940087T>C	ENST00000373344.5	-	9	877		c.e9-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCACACCACCTGAAATGTTTT	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	94					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000													4	135					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4012979	4012979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:4012979G>A	ENST00000262971.2	+	2	201	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	29	SAP.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGTGGGCCGGAGTAAGAGT	0.552000													3	87					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74472143	74472143	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:74472143G>A	ENST00000437994.2	+	8	1226	c.795G>A	c.(793-795)acG>acA	p.T265T	CD109_ENST00000287097.5_Silent_p.T265T|CD109_ENST00000422508.2_Silent_p.T188T	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGACGTAACGCTTACATTTT	0.294000													5	37					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987173	215987173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:215987173A>G	ENST00000366943.2	-	49	10030	c.9644T>C	c.(9643-9645)gTt>gCt	p.V3215A	USH2A_ENST00000307340.3_Missense_Mutation_p.V3215A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3215					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATTCAGAACAAACGGGAT	0.433000										HNSCC(13;0.011)			7	60					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10090693	10090693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:10090693G>T	ENST00000380861.4	+	12	2056	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	WWC3_ENST00000454666.1_Missense_Mutation_p.L555F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	555										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAAGAGGTTGGAGAGGAGGG	0.552000													17	478					3.51602e-12	4.04674e-12	1	1	0
PAX4	5078	broad.mit.edu	37	7	127251252	127251252	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:127251252G>A	ENST00000341640.2	-	9	1103	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	311	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTGTGGGGGCAAGTGGCCT	0.572000													3	3					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000													2	5					6.4e-05	6.84912e-05	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													5	104					0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234978646	234978646	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:234978646G>T	ENST00000168148.3	+	7	713	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	209					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATAAATACTGACTTTGAGTA	0.443000													3	57					0.0215528	0.0222834	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30138295	30138295	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:30138295T>C	ENST00000376694.4	+	5	1218	c.749T>C	c.(748-750)tTt>tCt	p.F250S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	250					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGAAGACTTTTGTGAGTCCT	0.458000													7	63					0	0	1	0	0
ARHGAP19-SLIT1	0	broad.mit.edu	37	10	98924609	98924609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:98924609T>C	ENST00000453547.2	-	12	1512	c.1513A>G	c.(1513-1515)Atg>Gtg	p.M505V	SLIT1_ENST00000266058.4_Missense_Mutation_p.N79S|SLIT1_ENST00000371070.4_Missense_Mutation_p.N79S|SLIT1_ENST00000371041.3_Missense_Mutation_p.N79S|SLIT1_ENST00000456008.2_5'UTR																							CGCAAAGTCATTCTTATGGAT	0.622000													84	85					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303695	134303695	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:134303695G>C	ENST00000344129.2	-	2	328	c.102C>G	c.(100-102)acC>acG	p.T34T	CXorf48_ENST00000276241.6_Silent_p.T34T	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTCAACTGGGTGTCACCTA	0.433000													16	31					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225733	26225733	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:26225733C>T	ENST00000360408.1	+	1	351	c.351C>T	c.(349-351)cgC>cgT	p.R117R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGCCAAACGCGTGACCATCA	0.557000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	105					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572000													3	33					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138689854	138689854	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:138689854T>G	ENST00000520602.1	-	15	1951	c.1666A>C	c.(1666-1668)Aag>Cag	p.K556Q	MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000370576.4_Missense_Mutation_p.K496Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	496	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGATACTTCTTTAAAACATCC	0.373000													4	53					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73610227	73610227	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:73610227G>T	ENST00000544909.1	+	3	579	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.G90C|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.G107C|PAAF1_ENST00000544552.1_Missense_Mutation_p.G90C|PAAF1_ENST00000376384.5_Missense_Mutation_p.G90C			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	107					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGGAGGTCTTGGTGTGTCTTC	0.388000													3	56					2.56e-06	2.78857e-06	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21770676	21770676	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:21770676C>G	ENST00000206660.6	+	4	520	c.520C>G	c.(520-522)Cct>Gct	p.P174A	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P174A|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P174A			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	174					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACACAGCCCCTCCATCGTT	0.468000													2	10					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220406861	220406861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:220406861G>A	ENST00000243776.6	-	2	613	c.365C>T	c.(364-366)gCg>gTg	p.A122V	CHPF_ENST00000373891.2_Missense_Mutation_p.A122V|CHPF_ENST00000535926.1_5'UTR	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	122						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCAGCACCGCCACCAGCAG	0.677000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21826380	21826380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:21826380G>A	ENST00000328843.6	+	60	9788	c.9757G>A	c.(9757-9759)Gga>Aga	p.G3253R	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3246R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3253	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTCTTCATGGGAAAGGTATC	0.453000									Kartagener syndrome				7	247					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048480	6048480	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:6048480C>A	ENST00000316650.5	-	1	491	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGAAGACACTAGCTTTGGC	0.493000													7	106					0.00621372	0.00653512	1	1	0
PTPN21	11099	broad.mit.edu	37	14	88946264	88946264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:88946264G>A	ENST00000556564.1	-	13	1795	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PTPN21_ENST00000328736.3_Missense_Mutation_p.S504L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	504						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGCCGCTGGCGAGGGGAGCTG	0.701000													4	86					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994102	91994102	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000356444.2_Silent_p.A702A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617000													4	55					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231403559	231403559	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:231403559C>T	ENST00000366647.4	+	9	1358	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	397					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTCAGAACCGGCCATCCAT	0.458000													3	52					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210750	37210750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:37210750G>A	ENST00000585696.1	+	3	2261	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	ZNF567_ENST00000536254.2_Missense_Mutation_p.R375H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H|ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443000													6	75					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305133	48305133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:48305133C>T	ENST00000535759.1	-	4	1425	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	TPRX1_ENST00000322175.3_Missense_Mutation_p.D379N|TPRX1_ENST00000543508.1_Missense_Mutation_p.D369N			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ATAGAGTCATCCCCTTCTTGG	0.512000													12	158					0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424577	114424577	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:114424577T>C	ENST00000393316.3	-	3	463	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	BCL2L15_ENST00000488450.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	98					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCAGGTCTTGCTGAGA	0.468000													4	39					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164200	151164201	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:151164200_151164201insT	ENST00000282466.3	-	4	3567_3568	c.3568_3569insA	c.(3568-3570)gacfs	p.D1190fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1190					cell differentiation|multicellular organismal development|ossification	extracellular region		p.M1190K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATAATAGTCATTGGTGGCTTG	0.396													20	155	---	---	---	---					
CTD-2296D1.4	0	broad.mit.edu	37	5	7372948	7372950	+	RNA	DEL	ACC	ACC	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr5:7372948_7372950delACC	ENST00000513219.1	-	0	202																											taccatcattaccaccaccacca	0.507													4	2	---	---	---	---					
ASCL4	121549	broad.mit.edu	37	12	108169421	108169421	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:108169421delC	ENST00000342331.4	+	1	1260	c.429delC	c.(427-429)gtfs	p.V143fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	142					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGGCGCCGTCCCCCAGCGCA	0.721													2	4	---	---	---	---					
OR11H12	440153	broad.mit.edu	37	14	19378063	19378063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:19378063delC	ENST00000550708.1	+	1	542	c.470delC	c.(469-471)gcfs	p.A157fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468													11	621	---	---	---	---					
