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
KRAS	3845	broad.mit.edu	37	12	25398269	25398269	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398269C>G	ENST00000311936.3	-	2	241	c.50G>C	c.(49-51)aGt>aCt	p.S17T	KRAS_ENST00000557334.1_Missense_Mutation_p.S17T|KRAS_ENST00000556131.1_Missense_Mutation_p.S17T|KRAS_ENST00000256078.4_Missense_Mutation_p.S17T	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	17					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.S17N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CGTCAAGGCACTCTTGCCTAC	0.358000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	24					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215289	105215289	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:105215289G>A	ENST00000329905.5	-	2	907	c.771C>T	c.(769-771)gaC>gaT	p.D257D	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	257						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCAGCTCCAGGTCATGGTTCA	0.637000													5	14					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161762027	161762027	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:161762027G>A	ENST00000367942.3	+	6	665	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	200				VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997).	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CAGTGTTCCAGCAAAAACCAT	0.423000													4	196					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41191890	41191890	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr15:41191890G>T	ENST00000220509.5	+	4	1213	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	292					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)		GGGGGATGGTGTGTTGTATGG	0.652000													21	47					1.00905e-13	1.00905e-13	1	1	0
OCRL	4952	broad.mit.edu	37	X	128703312	128703312	+	Missense_Mutation	SNP	A	A	G	rs137853847		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:128703312A>G	ENST00000371113.4	+	15	1703	c.1538A>G	c.(1537-1539)tAt>tGt	p.Y513C	OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	513			Y -> C (in OCRL; dbSNP:rs137853847).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGCTTAATTATCGGAGTCAC	0.423000													46	27					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796648	109796648	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:109796648T>C	ENST00000297459.3	-	2	858	c.680A>G	c.(679-681)cAc>cGc	p.H227R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	227					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCGGTCCAGGTGAGCCCCCAG	0.612000													12	30					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	76					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	24					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135003172	135003172	+	Splice_Site	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:135003172C>T	ENST00000304613.3	+	8	1533	c.1513_splice	c.e8+1	p.N504_splice	KNDC1_ENST00000368571.2_Splice_Site_p.N439_splice|KNDC1_ENST00000368572.2_Splice_Site_p.N504_splice			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	504	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCTGCCAACGGTGAGTGTG	0.622000													5	17					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406094	23406094	+	Silent	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr22:23406094C>T	ENST00000216036.4	-	5	835	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	213							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CATTAAGGAGCGCACGGGCGG	0.632000													8	15					0	0	1	0	0
RBPMS	11030	broad.mit.edu	37	8	30335338	30335338	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:30335338G>A	ENST00000320203.4	+	3	750	c.168G>A	c.(166-168)aaG>aaA	p.K56K	RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000339877.4_Silent_p.K56K|RBPMS_ENST00000397323.4_Silent_p.K56K|RBPMS_ENST00000538486.1_Silent_p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	56	RRM.				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)		CTCTTATAAAGCTCACATCTA	0.323000													12	25					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19726144	19726144	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr21:19726144A>G	ENST00000284885.3	-	9	950	c.917T>C	c.(916-918)aTt>aCt	p.I306T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	306	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTTGGAAAAAATTCTTATTGT	0.323000													18	48					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52841730	52841730	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:52841730G>A	ENST00000252252.3	-	7	1303	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	419	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ATCCTTGAGGGCCATCTCCCC	0.577000													5	74					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674609	36674609	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36674609G>A	ENST00000355114.5	-	5	1105	c.379C>T	c.(379-381)Cta>Tta	p.L127L	ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTTTTTGTAGAAATTTCTCA	0.383000													26	62					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948658	133948658	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr9:133948658G>A	ENST00000361069.4	+	20	3577	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1148	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCCCAGTCAGCCGACCAAAT	0.582000													20	21					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567708	223567708	+	Silent	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:223567708C>T	ENST00000366875.3	+	1	994	c.891C>T	c.(889-891)acC>acT	p.T297T		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	297										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGATGACCCTGGAGCGGG	0.672000													3	6					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36214058	36214058	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36214058C>T	ENST00000222270.7	+	6	2884	c.2884C>T	c.(2884-2886)Cgc>Tgc	p.R962C	WBP7_ENST00000420124.1_Missense_Mutation_p.R962C|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CAAGAAGATGCGCATGGCTCG	0.637000													3	43					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								18	44					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38355310	38355310	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:38355310T>C	ENST00000373023.2	-	9	1049	c.956A>G	c.(955-957)cAg>cGg	p.Q319R	INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R|INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R|INPP5B_ENST00000373026.1_Missense_Mutation_p.Q319R	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	319					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACTTCTGCATGGATAA	0.408000													41	75					0	0	1	0	0
GGPS1	9453	broad.mit.edu	37	1	235505740	235505740	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:235505740A>G	ENST00000282841.5	+	4	788	c.556A>G	c.(556-558)Att>Gtt	p.I186V	GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	186					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			CTTTTTCCAAATTAGGGATGA	0.358000													22	51					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104362	131104362	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:131104362G>C	ENST00000357668.1	-	24	2456	c.2429C>G	c.(2428-2430)cCt>cGt	p.P810R	ASAP1_ENST00000518721.1_Missense_Mutation_p.P810R			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	810	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGTGCTTAGAGGGAGTGTTGA	0.537000													12	28					0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134367042	134367042	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr5:134367042T>C	ENST00000265340.7	-	2	742	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	109						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGGTTCCTCTGGAACGTGGC	0.647000													22	24					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210012341	210012341	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:210012341A>G	ENST00000491415.2	+	7	1207	c.1150A>G	c.(1150-1152)Atc>Gtc	p.I384V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	384					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CAAGAAGAAAATCATTGTGAG	0.507000													22	46					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81052057	81052057	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:81052057G>A	ENST00000334512.5	+	11	1473	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	301	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCCACGGCCACTGTGGC	0.637000													21	58					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61890672	61890672	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:61890672G>A	ENST00000578681.1	+	16	2361	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	DDX42_ENST00000389924.2_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000583590.1_Missense_Mutation_p.G587D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	587	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATAGGATTGGCCGCACAGGA	0.498000													12	32					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93590772	93590772	+	Splice_Site	SNP	G	G	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:93590772G>C	ENST00000371627.4	+	10	1575		c.e10+1			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGACTAAAGAGTAAGTATACA	0.313000													3	49					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563350	22563350	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:22563350G>A	ENST00000419308.2	-	2	714	c.512C>T	c.(511-513)gCc>gTc	p.A171V	FOXA2_ENST00000377115.4_Missense_Mutation_p.A171V|FOXA2_ENST00000319993.4_Missense_Mutation_p.A177V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	171					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGGATGGCCATGGTGAT	0.637000													18	52					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490800	76490800	+	Missense_Mutation	SNP	G	G	A	rs144975660	by1000genomes	TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:76490800G>A	ENST00000389840.5	-	40	6227	c.6103C>T	c.(6103-6105)Cgg>Tgg	p.R2035W	DNAH17_ENST00000585328.1_Missense_Mutation_p.R2044W|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCGCCCGCATGAGCACC	0.627000													3	40					0	0	1	0	0
LINC00518	0	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													2	4	---	---	---	---					
SENP6	26054	broad.mit.edu	37	6	76412532	76412533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:76412532_76412533insA	ENST00000370014.3	+	19	3079_3080	c.2460_2461insA	c.(2458-2463)gcagccfs	p.A821fs	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000447266.2_Frame_Shift_Ins_p.A821fs|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.A814fs	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	821	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACTCTTCTGCCAAGCCTGTAAT	0.381													20	54	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2750108	2750108	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:2750108delT	ENST00000320876.6	+	31	4333	c.3995delT	c.(3994-3996)gtfs	p.V1332fs	SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1332					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTATTCAGTGTTTTTGCCCCT	0.368													2	4	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20262850	20262850	+	RNA	DEL	T	T	-	rs142097873		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:20262850delT	ENST00000593655.1	-	0	337				CTC-260E6.6_ENST00000586657.1_RNA																							TTCttttttcttttttttttt	0.468													2	4	---	---	---	---					
PDRG1	81572	broad.mit.edu	37	20	30539716	30539716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:30539716delC	ENST00000202017.4	-	1	179	c.49delG	c.(49-51)agfs	p.E18fs		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	18					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGAGCTCCTCCACTTCTACA	0.711											OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
MAGEA8	4107	broad.mit.edu	37	X	149013062	149013062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:149013062delA	ENST00000535454.1	+	4	565	c.16delA	c.(16-18)agfs	p.K6fs	MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000542674.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	6										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCAGAAGAGTCAGCG	0.602													2	4	---	---	---	---