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
ARMC5	79798	broad.mit.edu	37	16	31477726	31477726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr16:31477726G>A	ENST00000408912.3	+	8	2926	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	ARMC5_ENST00000538189.1_Missense_Mutation_p.R807Q|ARMC5_ENST00000268314.4_Missense_Mutation_p.R775Q|ARMC5_ENST00000412665.2_Missense_Mutation_p.R419Q|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000563544.1_Missense_Mutation_p.R775Q			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	775							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTTTCTTCCGGGCCCTGCTG	0.667000													8	30					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:100484755C>T	ENST00000388793.4	+	15	2126	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SRRT_ENST00000457580.2_Missense_Mutation_p.P637S|SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	637					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572000													5	283					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451059	44451059	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:44451059G>T	ENST00000356836.6	+	5	1640	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	B4GALT2_ENST00000309519.7_Missense_Mutation_p.D313Y|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.D284Y|B4GALT2_ENST00000434555.2_Missense_Mutation_p.D218Y	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	284					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CGAGGATGATGACATCTTCAA	0.597000													15	62					1.3612e-06	1.45573e-06	1	1	0
EXOC2	55770	broad.mit.edu	37	6	564672	564672	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:564672C>T	ENST00000230449.4	-	15	1675	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	EXOC2_ENST00000448181.3_Missense_Mutation_p.V109M	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	514					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTAAGCTTCACCAGGGAGTGC	0.507000													16	94					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637146	46637146	+	Silent	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:46637146C>A	ENST00000326737.3	-	2	889	c.642G>T	c.(640-642)gcG>gcT	p.A214A		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	214						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TGTGCATACCCGCTTCAAACT	0.498000													37	215					3.75037e-06	3.95587e-06	1	1	0
USPL1	10208	broad.mit.edu	37	13	31205139	31205139	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr13:31205139C>T	ENST00000255304.4	+	4	738	c.396C>T	c.(394-396)gaC>gaT	p.D132D	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	132					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGCTATTGACGGTGGAAAAG	0.368000													24	49					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675899	77675899	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:77675899G>A	ENST00000296043.6	+	7	5216	c.4263G>A	c.(4261-4263)tcG>tcA	p.S1421S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1421					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAGGGTCTCGCTGCCTCAGT	0.607000													13	61					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765872	61765872	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr8:61765872C>T	ENST00000423902.2	+	31	7067	c.6588C>T	c.(6586-6588)acC>acT	p.T2196T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2196	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGAAGAAACCGATGGCAGCG	0.532000													8	60					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10394634	10394634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:10394634C>T	ENST00000377086.1	+	28	3183	c.2981C>T	c.(2980-2982)gCc>gTc	p.A994V	KIF1B_ENST00000377081.1_Missense_Mutation_p.A994V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A948V			O60333	KIF1B_HUMAN	kinesin family member 1B	994					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACAGGGTGGCCATCGTCAGT	0.517000													75	187					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701070	8701070	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:8701070C>T	ENST00000329805.4	-	1	1597	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	457						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATGGGGAGGACGGACCACCAG	0.612000													35	128					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261696	160261696	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	370					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399515	179399515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:179399515C>A	ENST00000589042.1	-	358	102051	c.101827G>T	c.(101827-101829)Gaa>Taa	p.E33943*	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E32302*|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E25003*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24878*|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E25070*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31375*|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32302							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATATTTTCTGGTCTAATG	0.368000													48	63					2.13384e-23	2.48948e-23	1	1	0
LMNB2	84823	broad.mit.edu	37	19	2434446	2434446	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:2434446C>T	ENST00000325327.3	-	7	1111	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	LMNB2_ENST00000582871.1_Missense_Mutation_p.R330Q			Q03252	LMNB2_HUMAN	lamin B2	330	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCATCTTCCGGAACTTGTC	0.667000													6	77					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140161436	140161436	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr9:140161436C>T	ENST00000343053.4	+	9	1473	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		ATGCTCATGTCCTTCCTGGTG	0.587000													12	65					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44290524	44290524	+	Missense_Mutation	SNP	G	G	A	rs111385873		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:44290524G>A	ENST00000262915.3	+	5	553	c.376G>A	c.(376-378)Gag>Aag	p.E126K	ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E111K|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E111K|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E95K|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E126K|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E95K|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372369.1_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	76					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				gtcactgagcgaggacacagc	0.433000													7	28					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641386	99641386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr14:99641386C>T	ENST00000345514.2	-	3	1840	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	BCL11B_ENST00000357195.3_Missense_Mutation_p.G596D|BCL11B_ENST00000443726.2_Missense_Mutation_p.G402D	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	596						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGACCTTGCCCAGCACCAG	0.741000			T	TLX3	T-ALL								9	61					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685565	47685565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:47685565C>T	ENST00000371883.3	-	4	1405	c.829G>A	c.(829-831)Gcg>Acg	p.A277T	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.A275T|TAL1_ENST00000294339.3_Missense_Mutation_p.A275T			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGGGGGCGCGccgccccct	0.701000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								16	16					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77711840	77711840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:77711840G>A	ENST00000328313.5	+	5	1593	c.1372G>A	c.(1372-1374)Gca>Aca	p.A458T		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	458					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.A458T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCTGAGGTCGCATAACGCCC	0.642000													5	195					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60561573	60561573	+	Silent	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:60561573C>A	ENST00000308287.1	+	5	585	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	163						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ACCCCAACTCCACGGTGAGTA	0.567000													4	159					0.00909568	0.00933823	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154394335	154394335	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr5:154394335C>G	ENST00000435029.4	+	1	1076	c.916C>G	c.(916-918)Cac>Gac	p.H306D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	306	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGTAACAGCCACACTCTTAT	0.438000													57	175					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362786	22362786	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:22362786T>A	ENST00000397121.2	-	3	2050	c.1733A>T	c.(1732-1734)tAt>tTt	p.Y578F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTTATGATAACTAACAGT	0.353000													14	98					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46701815	46701815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr13:46701815C>G	ENST00000398576.2	-	19	2183	c.1795G>C	c.(1795-1797)Gcc>Ccc	p.A599P	LCP1_ENST00000323076.2_Missense_Mutation_p.A599P|LCP1_ENST00000435666.2_Missense_Mutation_p.A168P			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTGGCAGGGCATACACTCTT	0.488000			T	BCL6	NHL								10	294					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159065	18159065	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:18159065T>C	ENST00000396275.2	+	3	677	c.316T>C	c.(316-318)Tac>Cac	p.Y106H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GACCTTTCCCTACTTTATAGG	0.552000													44	230					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956847	70956847	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:70956847G>A	ENST00000334414.6	-	16	3989	c.3945C>T	c.(3943-3945)tcC>tcT	p.S1315S	PTPRB_ENST00000261266.5_Silent_p.S1097S|PTPRB_ENST00000550358.1_Silent_p.S1227S|PTPRB_ENST00000451516.2_Silent_p.S1007S|PTPRB_ENST00000538708.1_Silent_p.S1007S|PTPRB_ENST00000551525.1_Silent_p.S1314S|PTPRB_ENST00000550857.1_Silent_p.S1007S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1097	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTGCCTGGTGGAGTTCTCTG	0.562000													4	47					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132006590	132006590	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:132006590G>T	ENST00000414305.1	+	14	1535	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	ENPP3_ENST00000357639.3_Missense_Mutation_p.A403S|ENPP3_ENST00000358229.5_Missense_Mutation_p.A403S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCAT	0.363000													51	269					2.41709e-19	2.737e-19	1	1	0
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	A	rs114601020	by1000genomes	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:60139745C>A	ENST00000371218.4	+	15	1708	c.1524C>A	c.(1522-1524)tcC>tcA	p.S508S	FGGY_ENST00000371212.1_Silent_p.S396S|FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000303721.7_Silent_p.S484S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612000													9	26					4.68919e-08	5.08546e-08	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2641515	2641515	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:2641515C>T	ENST00000324666.5	+	4	570	c.219C>T	c.(217-219)caC>caT	p.H73H	FAM193A_ENST00000545951.1_Silent_p.H73H|FAM193A_ENST00000382839.3_Silent_p.H73H|FAM193A_ENST00000502458.1_Silent_p.H73H|FAM193A_ENST00000505311.1_Silent_p.H73H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	73										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATAATAAACACCTGTTTGAAA	0.398000													20	86					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40117329	40117329	+	RNA	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:40117329C>T	ENST00000591658.1	+	0	1718							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGGAGGCCTTCGGGAGAATTA	0.463000													7	30					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104738	5104738	+	Silent	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:5104738T>C	ENST00000396912.1	+	5	2170	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.L551L|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	551	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAATGAGTTGTCATACTA	0.388000													16	112					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428692	179428692	+	Silent	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:179428692C>A	ENST00000589042.1	-	326	82391	c.82167G>T	c.(82165-82167)ctG>ctT	p.L27389L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L25748L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L18449L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L18324L|TTN_ENST00000342175.6_Silent_p.L18516L|TTN_ENST00000342992.6_Silent_p.L24821L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25748	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCATGCCAGGTAACATT	0.468000													4	192					0.00909568	0.00933823	1	1	0
GFPT1	2673	broad.mit.edu	37	2	69556851	69556851	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:69556851C>T	ENST00000357308.4	-	16	1740	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	GFPT1_ENST00000361060.4_Missense_Mutation_p.R503H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	521					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GATCTCTTTGCGTCTTTCTTG	0.408000													30	117					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885104	88885104	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr8:88885104C>T	ENST00000319675.3	-	1	1192	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	366										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGAAGGCCACACTGGGAATG	0.592000													19	183					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6666429	6666429	+	Silent	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:6666429T>A	ENST00000541778.1	-	16	2645	c.2157A>T	c.(2155-2157)acA>acT	p.T719T	NOP2_ENST00000322166.5_Silent_p.T723T|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000537442.1_Silent_p.T723T|NOP2_ENST00000382421.3_Silent_p.T756T|NOP2_ENST00000399466.2_Silent_p.T719T			P46087	NOP2_HUMAN	NOP2 nucleolar protein	723					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTTGTGTGTCTGTGCCCTTGG	0.537000													62	436					0	0	1	0	0
COX18	285521	broad.mit.edu	37	4	73923918	73923918	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:73923918G>A	ENST00000295890.4	-	6	1006	c.915C>T	c.(913-915)tgC>tgT	p.C305C	COX18_ENST00000507544.2_Silent_p.C306C	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	305					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGTATTCGGCAAAGTTGGC	0.393000													4	193					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152660381	152660381	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:152660381G>T	ENST00000367255.5	-	75	12947	c.12346C>A	c.(12346-12348)Caa>Aaa	p.Q4116K	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3981K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4045K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4116K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4045K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4116					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCGTTTGCTCTGTTTGT	0.378000										HNSCC(10;0.0054)			32	70					1.99505e-19	2.29282e-19	1	1	0
FAT1	2195	broad.mit.edu	37	4	187518256	187518256	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:187518256G>A	ENST00000441802.2	-	25	12647	c.12438C>T	c.(12436-12438)caC>caT	p.H4146H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4146	EGF-like 5; calcium-binding (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATAGGAGCCGTGCGTGTTCT	0.587000										HNSCC(5;0.00058)			10	50					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091598	159091598	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:159091598G>A	ENST00000592057.1	-	2	1332	c.930C>T	c.(928-930)ttC>ttT	p.F310F	FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000393807.5_Intron			Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	0						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCAAATAACGAAGCATGTGA	0.463000													27	68					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662726	5662726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:5662726G>A	ENST00000425013.2	-	17	2590	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.P846L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	789	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGGTTCTGCGGAACGGGCCT	0.627000													13	75					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23689485	23689485	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:23689485C>A	ENST00000546136.1	-	13	1853	c.1851G>T	c.(1849-1851)aaG>aaT	p.K617N	SOX5_ENST00000451604.2_Missense_Mutation_p.K630N|SOX5_ENST00000309359.1_Missense_Mutation_p.K617N|SOX5_ENST00000537393.1_Missense_Mutation_p.K595N|SOX5_ENST00000396007.2_Missense_Mutation_p.K244N|SOX5_ENST00000545921.1_Missense_Mutation_p.K620N|SOX5_ENST00000381381.2_Missense_Mutation_p.K509N|SOX5_ENST00000541536.1_Missense_Mutation_p.K509N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	630					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K630K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGCAGGTGCGCTTTGGCCTGG	0.517000													33	136					1.22384e-17	1.36573e-17	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51927390	51927390	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:51927390C>T	ENST00000371117.3	-	14	1320	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G349R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	349					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCTGTACCCTGGGGTGGCT	0.478000													44	209					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107972	35107972	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr9:35107972C>T	ENST00000378561.1	-	2	3355	c.300G>A	c.(298-300)ggG>ggA	p.G100G	FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Silent_p.G100G|FAM214B_ENST00000603301.1_Silent_p.G100G|FAM214B_ENST00000488109.2_Silent_p.G100G|FAM214B_ENST00000378557.1_Silent_p.G100G|FAM214B_ENST00000378554.2_Silent_p.G100G|FAM214B_ENST00000605244.1_Silent_p.G100G			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	100						nucleus											GGCCTAAGAGCCCCACAGTAG	0.622000													21	234					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr18:3215034C>T	ENST00000356443.4	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.R63Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	63						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687000													11	33					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66519029	66519029	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:66519029G>A	ENST00000589228.1	+	3	438	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	PRKAR1A_ENST00000588188.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.V104I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.V104I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	104	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CAGCGCTGAGGTCTACACGGA	0.512000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				5	169					0	0	1	0	0
NIFK	84365	broad.mit.edu	37	2	122485367	122485367	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:122485367T>A	ENST00000285814.4	-	7	887	c.815A>T	c.(814-816)gAa>gTa	p.E272V	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		272					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTGTATTTCTTCTTTTACACA	0.333000													32	151					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80752037	80752037	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:80752037C>G	ENST00000458043.2	+	49	6008	c.6002C>G	c.(6001-6003)tCt>tGt	p.S2001C	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1989C|OTOGL_ENST00000546620.1_Missense_Mutation_p.S20C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTGTGAATCTTGCACCAAA	0.348000													12	44					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99949494	99949494	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:99949494C>T	ENST00000264255.3	-	2	435	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TXNDC9_ENST00000409434.1_Silent_p.Q60Q	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	60					cell redox homeostasis		protein binding			lung(1)	1						CTTGTTTCTGCTGTTGAGCTT	0.388000													42	143					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350773	23350773	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr20:23350773G>A	ENST00000338121.5	+	6	1908	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	GZF1_ENST00000377051.2_Missense_Mutation_p.D611N|GZF1_ENST00000542987.1_Missense_Mutation_p.D120N|GZF1_ENST00000544236.1_Missense_Mutation_p.D135N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	611					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTCATTGTAGATGGCTCGCC	0.418000													30	67					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324698	7324698	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:7324698A>C	ENST00000323675.3	+	3	729	c.704A>C	c.(703-705)tAc>tCc	p.Y235S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	235					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GCGGCTCAGTACCAGCCTGTC	0.637000													6	31					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563712	36563712	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:36563712G>A	ENST00000397799.1	-	4	1794	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	COL8A2_ENST00000481785.1_Missense_Mutation_p.P459S|COL8A2_ENST00000303143.4_Missense_Mutation_p.P524S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	524	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGGCCCGGGAGGCCCCGGA	0.756000													6	4					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160062156	160062156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:160062156C>T	ENST00000368086.1	-	5	1858	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	IGSF8_ENST00000314485.7_Missense_Mutation_p.A548T			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	548	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCACCCAGGCGCTGGGGGCA	0.647000													20	107					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20854732	20854732	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr14:20854732C>T	ENST00000262715.5	-	19	2775	c.2735G>A	c.(2734-2736)gGg>gAg	p.G912E	TEP1_ENST00000556935.1_Missense_Mutation_p.G804E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	912					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCCCGCTCCCCATGCATGTC	0.622000													9	28					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66270139	66270139	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:66270139C>T	ENST00000273854.3	-	8	2343	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	EPHA5_ENST00000511294.1_Silent_p.V582V|EPHA5_ENST00000432638.2_Silent_p.V418V|EPHA5_ENST00000354839.4_Silent_p.V581V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	581					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATGACTCCCACTGTCACAG	0.473000										TSP Lung(17;0.13)			10	100					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938804	2938804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:2938804C>T	ENST00000378404.2	+	1	759	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	185						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCCACGTGGCGGGCAGGGAC	0.642000													12	79					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:7578427T>A	ENST00000420246.2	-	5	635	c.503A>T	c.(502-504)cAc>cTc	p.H168L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000455263.2_Missense_Mutation_p.H168L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	168	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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)		CTCCGTCATGTGCTGTGACTG	0.652000		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)			11	48					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101120660	101120660	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr15:101120660C>A	ENST00000314742.8	-	2	610	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	LINS_ENST00000561308.1_Missense_Mutation_p.D130Y|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Intron	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	130										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AATTTAGAATCGACTTTGGCT	0.313000													13	81					9.05144e-12	9.95659e-12	1	1	0
GC	2638	broad.mit.edu	37	4	72618359	72618359	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:72618359T>C	ENST00000273951.8	-	11	1614	c.1271A>G	c.(1270-1272)gAg>gGg	p.E424G	GC_ENST00000504199.1_Missense_Mutation_p.E443G|GC_ENST00000513476.1_Missense_Mutation_p.E424G|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	424	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTTAGTCGCTCTGCCAGTCT	0.373000													18	157					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425421	49425421	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:49425421C>T	ENST00000301067.7	-	39	13066	c.13067G>A	c.(13066-13068)gGg>gAg	p.G4356E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGAGACCCTCCCAGGAGGCGG	0.622000													3	26					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													3	100					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270105	16270105	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:16270105C>T	ENST00000375733.2	-	11	1803	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	ZBTB17_ENST00000375743.4_Missense_Mutation_p.R522H|ZBTB17_ENST00000537142.1_Missense_Mutation_p.R440H			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	522					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGAATGCGGACGTGCCG	0.662000													4	140					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16035066	16035066	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:16035066G>A	ENST00000505450.1	-	4	955	c.343C>T	c.(343-345)Cct>Tct	p.P115S	PROM1_ENST00000447510.2_Missense_Mutation_p.P124S|PROM1_ENST00000540805.1_Missense_Mutation_p.P124S|PROM1_ENST00000543373.1_Missense_Mutation_p.P115S|PROM1_ENST00000539194.1_Missense_Mutation_p.P124S|PROM1_ENST00000508167.1_Missense_Mutation_p.P115S|PROM1_ENST00000510224.1_Missense_Mutation_p.P124S|PROM1_ENST00000502943.1_5'UTR	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	124					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CCCACCAGAGGCATCAGAATA	0.428000													7	35					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191380	23191380	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:23191380C>T	ENST00000400191.3	+	5	996	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.S326S|EPHB2_ENST00000544305.1_Silent_p.S326S|EPHB2_ENST00000374632.3_Silent_p.S326S|EPHB2_ENST00000374627.1_Silent_p.S320S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	326	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652000													16	116					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43900933	43900933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:43900933delT	ENST00000562955.1	+	41	5796	c.5796delT	c.(5794-5796)agfs	p.S1932fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.S1090fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1989						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGCCGAGAGTGAAGAAGATC	0.572													16	138	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149503917	149503920	+	RNA	DEL	GATA	GATA	-	rs72359812		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:149503917_149503920delGATA	ENST00000378016.2	+	0	8745							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGGCCCCGGGATAGATAGAGTGT	0.652													4	4	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													18	66	---	---	---	---					
RP11-179A10.1	0	broad.mit.edu	37	11	11158593	11158593	+	RNA	DEL	A	A	-	rs11303970		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:11158593delA	ENST00000525758.1	+	0	108																											aaaaaaaaagaaaaaaaaata	0.388													3	6	---	---	---	---					
SLC22A11	55867	broad.mit.edu	37	11	64323714	64323715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:64323714_64323715insC	ENST00000301891.4	+	1	617_618	c.243_244insC	c.(241-246)ggcccafs	p.GP81fs	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Frame_Shift_Ins_p.GP81fs|SLC22A11_ENST00000377581.3_Frame_Shift_Ins_p.GP81fs	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	81					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCAACCAGGGGCCCCACCAGTG	0.644											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	286	---	---	---	---					
ADCY7	113	broad.mit.edu	37	16	50340985	50340986	+	Frame_Shift_Ins	INS	-	-	C	rs74793314		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr16:50340985_50340986insC	ENST00000394697.2	+	15	2117_2118	c.1777_1778insC	c.(1777-1779)ccgfs	p.P593fs	ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	593					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CATCCCCCGGGCCCGCCACGAC	0.658													7	50	---	---	---	---					
KIF18B	146909	broad.mit.edu	37	17	43012716	43012719	+	Frame_Shift_Del	DEL	TGCC	TGCC	-			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:43012716_43012719delTGCC	ENST00000587309.1	-	3	402_405	c.379_382delGGCA	c.(379-384)tcfs	p.GI127fs	KIF18B_ENST00000339151.4_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000438933.2_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000590129.1_Frame_Shift_Del_p.GI136fs|KIF18B_ENST00000593135.1_Frame_Shift_Del_p.GI127fs	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGGTACATGATGCCGGGGTCCCCC	0.637													9	58	---	---	---	---					
ZNF611	81856	broad.mit.edu	37	19	53208627	53208638	+	In_Frame_Del	DEL	TATGAATTCTAG	TATGAATTCTAG	-	rs151210254	by1000genomes	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:53208627_53208638delTATGAATTCTAG	ENST00000543227.1	-	6	1944_1955	c.1670_1681delCTAGAATTCATA	c.(1669-1683)agt>a	p.TRIHS557del	ZNF611_ENST00000540744.1_In_Frame_Del_p.TRIHS557del|ZNF611_ENST00000453741.2_In_Frame_Del_p.TRIHS488del|ZNF611_ENST00000602162.1_In_Frame_Del_p.TRIHS488del|ZNF611_ENST00000319783.1_In_Frame_Del_p.TRIHS557del|ZNF611_ENST00000595798.1_In_Frame_Del_p.TRIHS488del	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTCTCTCCACTATGAATTCTAGTATGTTTTGC	0.406													62	403	---	---	---	---					
DEFB118	117285	broad.mit.edu	37	20	29960672	29960672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr20:29960672delA	ENST00000253381.2	+	2	104	c.71delA	c.(70-72)gafs	p.E24fs		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	24					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATAGTGGTGAAAAAAAATGC	0.398													15	70	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11042402	11042406	+	RNA	DEL	AAAAC	AAAAC	-	rs113265926		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr21:11042402_11042406delAAAAC	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaaaaaaaaaaaaacacctcataat	0.424													4	5	---	---	---	---					
