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
SGSH	6448	broad.mit.edu	37	17	78184560	78184560	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:78184560C>T	ENST00000326317.6	-	8	1286	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	SGSH_ENST00000534910.1_Silent_p.Q197Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	400					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGAAGTCCTGGTCGATGG	0.602000													25	46					0	0	0.018920	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780691	106780691	+	RNA	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr14:106780691C>T	ENST00000390612.2	-	0	244																											TGGGGGCTGCCGGATCCAGCC	0.577000													45	24					0	0	0.010771	0	0
STPG1	90529	broad.mit.edu	37	1	24706250	24706250	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:24706250C>G	ENST00000374409.1	-	5	609	c.355G>C	c.(355-357)Gat>Cat	p.D119H	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.D72H|STPG1_ENST00000003583.8_Missense_Mutation_p.D72H|STPG1_ENST00000337248.4_Missense_Mutation_p.D119H	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		GAAATAAAATCCGATGGGATA	0.428000													6	35					0	0	0.004482	0	0
HTR6	3362	broad.mit.edu	37	1	19992252	19992252	+	Silent	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:19992252C>A	ENST00000289753.1	+	1	473	c.6C>A	c.(4-6)gtC>gtA	p.V2V		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	2					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCTCATGGTCCCAGAGCCGG	0.751000													4	13					0.00024832	0.000260145	0.009096	1	0
C2orf83	56918	broad.mit.edu	37	2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	rs111332429	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:228476316C>T	ENST00000264387.4	-	3	333	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	83						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468000													22	38					0	0	0.012319	0	0
SPG11	80208	broad.mit.edu	37	15	44862786	44862786	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:44862786G>A	ENST00000261866.7	-	34	6430	c.6414C>T	c.(6412-6414)gtC>gtT	p.V2138V	SPG11_ENST00000535302.2_Silent_p.V2025V|SPG11_ENST00000427534.2_Silent_p.V2138V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2138					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGGCCTGTAGGACTCGGATGA	0.592000													4	20					0	0	0.009096	0	0
HYDIN	54768	broad.mit.edu	37	16	70843707	70843707	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:70843707C>G	ENST00000393567.2	-	85	15012	c.14862G>C	c.(14860-14862)caG>caC	p.Q4954H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4954										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTCTGTCCTCTGCCGTGTGT	0.517000													58	94					0	0	0.014410	0	0
VPS13D	55187	broad.mit.edu	37	1	12443180	12443180	+	Missense_Mutation	SNP	G	G	C	rs140461198		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:12443180G>C	ENST00000358136.3	+	58	11466	c.11336G>C	c.(11335-11337)aGa>aCa	p.R3779T	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3754T|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3778					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATCCATCAGAGTCATCCCA	0.433000													9	45					0	0	0.004482	0	0
RBPJ	3516	broad.mit.edu	37	4	26432465	26432465	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:26432465G>C	ENST00000342320.4	+	11	1473	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	RBPJ_ENST00000361572.6_Missense_Mutation_p.E447Q|RBPJ_ENST00000345843.3_Missense_Mutation_p.E432Q|RBPJ_ENST00000342295.1_Missense_Mutation_p.E447Q|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000348160.4_Missense_Mutation_p.E434Q|RBPJ_ENST00000507561.1_Missense_Mutation_p.E412Q|RBPJ_ENST00000355476.3_Missense_Mutation_p.E433Q			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	447	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTACACACCAGAACCAGGGCC	0.527000													17	41					0	0	0.004990	0	0
SCRN3	79634	broad.mit.edu	37	2	175263019	175263019	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:175263019C>A	ENST00000272732.6	+	2	90	c.8C>A	c.(7-9)cCt>cAt	p.P3H	SCRN3_ENST00000409673.3_Intron	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	3					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAAATGGAACCTTTTTCCTGT	0.289000													6	55					0.00116845	0.00121581	0.021553	1	0
MYOCD	93649	broad.mit.edu	37	17	12655998	12655998	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:12655998C>T	ENST00000425538.1	+	10	1593	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	MYOCD_ENST00000343344.4_Silent_p.L465L|MYOCD_ENST00000395988.1_Silent_p.L369L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	465	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCCTCTGACCTGTCAGTCGC	0.612000													18	79					0	0	0.006122	0	0
ZPBP2	124626	broad.mit.edu	37	17	38032946	38032946	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:38032946C>G	ENST00000377940.3	+	7	974	c.835C>G	c.(835-837)Cct>Gct	p.P279A	ZPBP2_ENST00000348931.4_Missense_Mutation_p.P301A|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P228A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	301					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGTTTGTAGTCCTGCGACTTT	0.373000													24	89					0	0	0.007291	0	0
GPR39	2863	broad.mit.edu	37	2	133402786	133402786	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:133402786G>T	ENST00000329321.3	+	2	1438	c.969G>T	c.(967-969)atG>atT	p.M323I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	323						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCGTACATGATCCTCCTCC	0.587000													21	45					1.9806e-07	2.21023e-07	0.014323	1	0
CLK1	1195	broad.mit.edu	37	2	201726085	201726085	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:201726085C>G	ENST00000434813.2	-	3	726	c.392G>C	c.(391-393)cGc>cCc	p.R131P	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000321356.4_Missense_Mutation_p.R89P	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	89					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTCTCTTTGGCGATGTCCAGG	0.403000													50	101					0	0	0.014410	0	0
EPN1	29924	broad.mit.edu	37	19	56203256	56203256	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:56203256C>T	ENST00000411543.2	+	7	1704	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	EPN1_ENST00000270460.6_Missense_Mutation_p.P300L|EPN1_ENST00000085079.7_Missense_Mutation_p.P275L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	300	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGCGGCCCCCCTGTCCCTCCA	0.751000													12	37					0	0	0.010729	0	0
ARMC4	55130	broad.mit.edu	37	10	28272787	28272787	+	Silent	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:28272787T>A	ENST00000305242.5	-	6	896	c.804A>T	c.(802-804)ggA>ggT	p.G268G	ARMC4_ENST00000239715.3_Silent_p.G125G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	268							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAAAATACTCCTCCTGCAC	0.433000													12	26					0	0	0.013537	0	0
CUBN	8029	broad.mit.edu	37	10	16873286	16873286	+	Missense_Mutation	SNP	C	C	T	rs143300012	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:16873286C>T	ENST00000377833.4	-	65	10558	c.10493G>A	c.(10492-10494)cGt>cAt	p.R3498H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3498	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCATATCCACGATCAGAAGT	0.393000													20	24					0	0	0.008871	0	0
FBXW7	55294	broad.mit.edu	37	4	153247255	153247255	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:153247255C>T	ENST00000281708.4	-	10	2776	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	FBXW7_ENST00000263981.5_Missense_Mutation_p.S436N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S398N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S516N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S340N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S516N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	516					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATATGCTCCACTAACAACCCT	0.443000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								22	122					0	0	0.014323	0	0
TTC14	151613	broad.mit.edu	37	3	180328289	180328289	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:180328289G>A	ENST00000296015.4	+	12	2404	c.2272G>A	c.(2272-2274)Gct>Act	p.A758T	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	758							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAATCAGATAGCTGAATTTGA	0.313000													8	86					0	0	0.004482	0	0
CHD5	26038	broad.mit.edu	37	1	6209356	6209356	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:6209356C>G	ENST00000262450.3	-	8	1210	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	371					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTCTGGGTCCAGGCATACG	0.657000													3	21					0	0	0.004672	0	0
SOGA1	140710	broad.mit.edu	37	20	35444329	35444329	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr20:35444329C>G	ENST00000237536.4	-	5	1857	c.1516G>C	c.(1516-1518)Ggg>Cgg	p.G506R	SOGA1_ENST00000357779.3_Missense_Mutation_p.G268R|SOGA1_ENST00000279034.5_Missense_Mutation_p.G268R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	268										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AAGCTCTCCCCGCACTCTCCG	0.662000													4	5					0	0	0.009096	0	0
MCF2L2	23101	broad.mit.edu	37	3	183006931	183006931	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:183006931C>T	ENST00000328913.3	-	14	2050	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D585N|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D585N|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D585N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	585					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTAGTCTCATCATCTTCCTTT	0.403000													21	33					0	0	0.010504	0	0
MID2	11043	broad.mit.edu	37	X	107084609	107084609	+	Silent	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:107084609A>G	ENST00000262843.6	+	2	1262	c.714A>G	c.(712-714)aaA>aaG	p.K238K	MID2_ENST00000443968.2_Silent_p.K238K	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	238						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATTTGAGAAACTCAAGGTAA	0.433000													13	14					0	0	0.016723	0	0
MED12	9968	broad.mit.edu	37	X	70338616	70338616	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:70338616C>G	ENST00000333646.6	+	1	211	c.12C>G	c.(10-12)ttC>ttG	p.F4L	MED12_ENST00000374102.1_Missense_Mutation_p.F4L|MED12_ENST00000374080.3_Missense_Mutation_p.F4L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	4					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCGGCCTTCGGGATCTTGA	0.672000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	4					0	0	0.003080	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958395	21958395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:21958395G>A	ENST00000289921.7	+	12	1574	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	510										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCTTCCTGGATTCCGGCTT	0.572000													34	78					0	0	0.017118	0	0
CALHM2	51063	broad.mit.edu	37	10	105207026	105207026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:105207026G>C	ENST00000260743.5	-	4	1378	c.855C>G	c.(853-855)taC>taG	p.Y285*	CALHM2_ENST00000369788.3_Nonsense_Mutation_p.Y285*	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	285						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CACGGTACAAGTAGACGCCGG	0.617000													19	43					0	0	0.007413	0	0
EIF3E	3646	broad.mit.edu	37	8	109254111	109254111	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:109254111T>G	ENST00000220849.5	-	2	184	c.122A>C	c.(121-123)aAa>aCa	p.K41T	EIF3E_ENST00000519030.1_Intron	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	41	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGGTCCAATTTACCTTGTAA	0.284000													10	41					0	0	0.013537	0	0
AHNAK	79026	broad.mit.edu	37	11	62291028	62291028	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62291028C>T	ENST00000378024.4	-	5	11135	c.10861G>A	c.(10861-10863)Gaa>Aaa	p.E3621K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3621					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCGACTTCAGGGCCTTCT	0.483000													78	81					0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62292958	62292958	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62292958C>T	ENST00000378024.4	-	5	9205	c.8931G>A	c.(8929-8931)gtG>gtA	p.V2977V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2977					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCGCCCTTCACCTTGGGAC	0.507000													66	67					0	0	0.014410	0	0
MYPN	84665	broad.mit.edu	37	10	69881386	69881386	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:69881386C>T	ENST00000358913.5	+	2	679	c.191C>T	c.(190-192)tCa>tTa	p.S64L	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.S64L|MYPN_ENST00000540630.1_Missense_Mutation_p.S64L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	64	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAGATCTTTCAGCCTTTCTG	0.527000													19	53					0	0	0.006122	0	0
CACNA1A	773	broad.mit.edu	37	19	13409899	13409899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:13409899C>T	ENST00000360228.5	-	19	2547	c.2548G>A	c.(2548-2550)Ggc>Agc	p.G850S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G851S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	851					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.G851C(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTGCTGGCCGAGGCGCTGG	0.721000													10	10					0	0	0.008291	0	0
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	C	G	rs116633831	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:45799323C>G	ENST00000553795.1	-	4	856	c.548G>C	c.(547-549)cGc>cCc	p.R183P	OR13A1_ENST00000374401.2_Missense_Mutation_p.R183P|OR13A1_ENST00000536058.1_Missense_Mutation_p.R183P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592000													20	48					0	0	0.010504	0	0
YWHAQ	10971	broad.mit.edu	37	2	9728378	9728378	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:9728378G>C	ENST00000381844.4	-	3	661	c.498C>G	c.(496-498)atC>atG	p.I166M	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	166					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCCCCAGGCGGATTGGGTGTG	0.428000													26	21					0	0	0.018920	0	0
AHNAK	79026	broad.mit.edu	37	11	62296638	62296638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62296638C>T	ENST00000378024.4	-	5	5525	c.5251G>A	c.(5251-5253)Gat>Aat	p.D1751N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1751					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGCATCAGTGTCCACA	0.483000													76	62					0	0	0.014410	0	0
MSRA	4482	broad.mit.edu	37	8	10285683	10285683	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:10285683C>T	ENST00000528246.1	+	7	994	c.371C>T	c.(370-372)cCc>cTc	p.P124L	MSRA_ENST00000317173.4_Missense_Mutation_p.P190L|MSRA_ENST00000441698.2_Missense_Mutation_p.P150L|MSRA_ENST00000382490.5_Missense_Mutation_p.P147L	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	190					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTTCGGCCCCATCACTACC	0.597000													14	26					0	0	0.016723	0	0
FBN3	84467	broad.mit.edu	37	19	8154783	8154783	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:8154783C>A	ENST00000600128.1	-	50	6659	c.6245G>T	c.(6244-6246)cGa>cTa	p.R2082L	FBN3_ENST00000601739.1_Missense_Mutation_p.R2082L|FBN3_ENST00000270509.2_Missense_Mutation_p.R2082L			Q75N90	FBN3_HUMAN	fibrillin 3	2082						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCACCTTCTCGGGAGTCATC	0.647000													5	3					1.23904e-05	1.34375e-05	0.014758	1	0
PDHX	8050	broad.mit.edu	37	11	34978997	34978997	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:34978997G>C	ENST00000448838.3	+	4	606	c.364G>C	c.(364-366)Gat>Cat	p.D122H	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.D137H	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	137	Lipoyl-binding.				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AGAAGGAGAAGATTGGAAACA	0.403000													20	55					0	0	0.008871	0	0
EFCAB14	9813	broad.mit.edu	37	1	47183657	47183657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:47183657C>G	ENST00000371933.3	-	1	1079	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	EFCAB14_ENST00000544071.1_Missense_Mutation_p.E35Q	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		TCGGGAGGCTCAGTGCGAAGC	0.542000													20	49					0	0	0.008871	0	0
GPR155	151556	broad.mit.edu	37	2	175330545	175330545	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:175330545T>C	ENST00000392552.2	-	7	1590	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	GPR155_ENST00000295500.4_Missense_Mutation_p.Y451C|GPR155_ENST00000392551.2_Missense_Mutation_p.Y451C	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	451					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAGGGAGCTGTACAATAGAAC	0.388000													5	15					0	0	0.021553	0	0
USP37	57695	broad.mit.edu	37	2	219362475	219362475	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:219362475G>C	ENST00000258399.3	-	13	1675	c.1263C>G	c.(1261-1263)ttC>ttG	p.F421L	USP37_ENST00000454775.1_Missense_Mutation_p.F421L|USP37_ENST00000418019.1_Missense_Mutation_p.F421L|USP37_ENST00000415516.1_Missense_Mutation_p.F349L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	421					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATAACCAGAGAATCTCTCTG	0.393000													21	38					0	0	0.012319	0	0
CSNK1E	1454	broad.mit.edu	37	22	38694865	38694865	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:38694865G>C	ENST00000396832.1	-	7	1071	c.811C>G	c.(811-813)Cag>Gag	p.Q271E	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.Q271E|CSNK1E_ENST00000413574.2_Missense_Mutation_p.Q271E|CSNK1E_ENST00000405675.3_Missense_Mutation_p.Q271E|CSNK1E_ENST00000359867.3_Missense_Mutation_p.Q271E|CSNK1E_ENST00000403904.1_Missense_Mutation_p.Q271E	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	271	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CGGAAGAGCTGACGTAGGTAA	0.547000											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	122					0	0	0.008740	0	0
MUC4	4585	broad.mit.edu	37	3	195516484	195516484	+	Missense_Mutation	SNP	G	G	C	rs3749330	by1000genomes	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:195516484G>C	ENST00000463781.3	-	2	2426	c.1967C>G	c.(1966-1968)tCc>tGc	p.S656C	MUC4_ENST00000475231.1_Missense_Mutation_p.S656C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	661					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTCATGGGGGAGACGGACCT	0.562000													12	172					0	0	0.010729	0	0
PROSER1	80209	broad.mit.edu	37	13	39587551	39587551	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:39587551C>A	ENST00000352251.3	-	11	2671	c.1838G>T	c.(1837-1839)aGt>aTt	p.S613I	PROSER1_ENST00000350125.3_Missense_Mutation_p.S591I|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	613	Ser-rich.																GGGAGTAGGACTTGTGGGCTC	0.502000													37	50					1.30998e-17	1.49435e-17	0.023175	1	0
NINJ2	4815	broad.mit.edu	37	12	675268	675268	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:675268A>G	ENST00000305108.4	-	2	528	c.248T>C	c.(247-249)aTg>aCg	p.M83T	NINJ2_ENST00000542920.1_Start_Codon_SNP_p.M1T|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000397265.3_Missense_Mutation_p.M30T|NINJ2_ENST00000433832.2_Start_Codon_SNP_p.M1T	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	37					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CACGTCCAGCATGCTCTCCGC	0.602000													11	34					0	0	0.013537	0	0
SLC6A13	6540	broad.mit.edu	37	12	332337	332337	+	Missense_Mutation	SNP	C	C	A	rs145396701	by1000genomes	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:332337C>A	ENST00000343164.4	-	12	1427	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.V367L|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	459					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAGATGGCCACGAACAGGAGG	0.522000													7	22					7.48243e-07	8.23067e-07	0.006214	1	0
ACSM1	116285	broad.mit.edu	37	16	20673130	20673130	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:20673130C>T	ENST00000307493.4	-	6	1045	c.978G>A	c.(976-978)caG>caA	p.Q326Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.Q326Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	326					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGAAATCCTGCTGCAGAATCA	0.368000													18	26					0	0	0.007413	0	0
PRDM15	63977	broad.mit.edu	37	21	43258051	43258051	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr21:43258051C>T	ENST00000422911.1	-	8	1205	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	PRDM15_ENST00000538201.1_Silent_p.S331S|PRDM15_ENST00000269844.3_Silent_p.S697S|PRDM15_ENST00000398548.1_Silent_p.S368S|PRDM15_ENST00000447207.2_Silent_p.S331S			P57071	PRD15_HUMAN	PR domain containing 15	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACTTTGGAACCGAGCTGGTGT	0.627000													23	52					0	0	0.024334	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130547	20130547	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:20130547T>C	ENST00000334554.7	+	10	1535	c.1394T>C	c.(1393-1395)tTt>tCt	p.F465S	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F465S|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.F373S	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	465						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CGTAGCATTTTTGCCCCCCAT	0.701000													6	62					0	0	0.021553	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360953	70360953	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:70360953C>T	ENST00000305107.6	-	1	673	c.627G>A	c.(625-627)gaG>gaA	p.E209E	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.E73E|UGT2B4_ENST00000512583.1_Silent_p.E209E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	209					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTTTTACCCTCTCTATGAAAG	0.378000													11	29					0	0	0.010729	0	0
ADAM17	6868	broad.mit.edu	37	2	9642395	9642395	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:9642395T>A	ENST00000310823.3	-	13	1737	c.1555A>T	c.(1555-1557)Agt>Tgt	p.S519C		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	519	Disintegrin.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CAGCAAGGACTGTTCCTGTCA	0.468000													43	40					0	0	0.007835	0	0
ZNF324B	388569	broad.mit.edu	37	19	58965127	58965127	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:58965127C>G	ENST00000336614.4	+	2	166	c.59C>G	c.(58-60)aCa>aGa	p.T20R	ZNF324B_ENST00000594214.1_Missense_Mutation_p.T20R|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T20R|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCTGGACACAGCGCAGAGG	0.572000													21	49					0	0	0.012319	0	0
TIMM10B	26515	broad.mit.edu	37	11	6503307	6503307	+	Silent	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:6503307G>C	ENST00000254616.6	+	3	238	c.168G>C	c.(166-168)ctG>ctC	p.L56L	TIMM10B_ENST00000472836.1_Silent_p.L56L|TIMM10B_ENST00000530751.1_Silent_p.L24L	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)																		CTGGGAAGCTGATCCATTCCA	0.602000													21	58					0	0	0.012319	0	0
OPLAH	26873	broad.mit.edu	37	8	145107094	145107094	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:145107094C>A	ENST00000426825.1	-	24	3520	c.3439G>T	c.(3439-3441)Gac>Tac	p.D1147Y	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1147							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ATCTCAGGGTCGGTGATGCGT	0.726000													6	6					3.59834e-05	3.84822e-05	0.021553	1	0
DNER	92737	broad.mit.edu	37	2	230272008	230272008	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:230272008C>G	ENST00000341772.4	-	10	1797	c.1663G>C	c.(1663-1665)Gga>Cga	p.G555R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	555	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.G555*(1)|p.G555R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTGGCTCCGTTCAGACAG	0.512000													18	79					0	0	0.012319	0	0
MAP3K7	6885	broad.mit.edu	37	6	91246083	91246083	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:91246083C>G	ENST00000369329.3	-	13	1490	c.1329G>C	c.(1327-1329)ttG>ttC	p.L443F	MAP3K7_ENST00000369327.3_Missense_Mutation_p.L416F|MAP3K7_ENST00000369320.1_Missense_Mutation_p.L97F|MAP3K7_ENST00000369332.3_Missense_Mutation_p.L416F|MAP3K7_ENST00000369325.3_Missense_Mutation_p.L443F|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	443					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGTTACAGTCAAGTCTTGGA	0.343000													13	28					0	0	0.016723	0	0
KMT2D	8085	broad.mit.edu	37	12	49443703	49443703	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:49443703G>C	ENST00000301067.7	-	11	3667	c.3668C>G	c.(3667-3669)tCa>tGa	p.S1223*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GAGGGGCTCTGAGCCAGGAAA	0.612000													29	42					0	0	0.027356	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724545	7724545	+	Silent	SNP	G	G	C	rs142993717		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:7724545G>C	ENST00000303635.7	+	9	2145	c.1938G>C	c.(1936-1938)acG>acC	p.T646T	CAMTA1_ENST00000439411.2_Silent_p.T646T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGATGCCCACGGTGAAAACGG	0.637000			T	WWTR1	epitheliod hemangioendothelioma								54	167					0	0	0.014410	0	0
WTAP	9589	broad.mit.edu	37	6	160176488	160176488	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:160176488G>A	ENST00000358372.4	+	8	2793	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	346					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CACGGGCAGTGAAAACTCTCT	0.507000													24	41					0	0	0.021523	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204413526	204413526	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:204413526A>T	ENST00000367187.3	-	18	3261	c.2705T>A	c.(2704-2706)aTg>aAg	p.M902K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.M874K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	902					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGCACAGCCATACGACGCAC	0.587000													4	15					0	0	0.009096	0	0
ADAM7	8756	broad.mit.edu	37	8	24326281	24326281	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:24326281G>A	ENST00000175238.6	+	7	664	c.579_splice	c.e7-1	p.G194_splice	ADAM7_ENST00000380789.1_Splice_Site_p.G194_splice|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTTTACAGGGCATCCATGAT	0.308000													3	41					0	0	0.004672	0	0
RAG1	5896	broad.mit.edu	37	11	36595094	36595094	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:36595094G>C	ENST00000299440.5	+	2	352	c.240G>C	c.(238-240)ttG>ttC	p.L80F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	80	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCAGCCATTGTTAAAAGCCC	0.488000									Familial Hemophagocytic Lymphohistiocytosis				17	108					0	0	0.006122	0	0
ENAM	10117	broad.mit.edu	37	4	71509483	71509483	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:71509483G>A	ENST00000396073.3	+	9	2621	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	780					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGAAGGCCGTATTTTAACA	0.473000													20	35					0	0	0.007413	0	0
REV3L	5980	broad.mit.edu	37	6	111680071	111680071	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:111680071G>A	ENST00000435970.1	-	19	7608	c.6792C>T	c.(6790-6792)ctC>ctT	p.L2264L	REV3L_ENST00000358835.3_Silent_p.L2342L|REV3L_ENST00000368805.1_Silent_p.L2342L|REV3L_ENST00000368802.3_Silent_p.L2342L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2342					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTACACCTGTGAGTTCTGTTT	0.398000								DNA polymerases (catalytic subunits)					26	58					0	0	0.021523	0	0
FZD2	2535	broad.mit.edu	37	17	42636331	42636331	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:42636331C>G	ENST00000315323.3	+	1	1407	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	425					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTACCTGTTCATCGGCACGT	0.637000													12	51					0	0	0.013537	0	0
KRT10	3858	broad.mit.edu	37	17	38976763	38976763	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:38976763C>G	ENST00000269576.5	-	3	876	c.867_splice	c.e3+1	p.E289_splice	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	289	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTGTGTCACCTCCTCGTGGT	0.468000													9	67					0	0	0.004482	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													3	23					0.00024832	0.000260145	0.009096	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58306120	58306120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:58306120G>C	ENST00000249750.4	-	3	1066	c.299C>G	c.(298-300)tCa>tGa	p.S100*	ALDH1A2_ENST00000347587.3_Nonsense_Mutation_p.S100*|ALDH1A2_ENST00000558231.1_Nonsense_Mutation_p.S71*|ALDH1A2_ENST00000537372.1_Nonsense_Mutation_p.S79*|ALDH1A2_ENST00000559517.1_Nonsense_Mutation_p.S4*	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	100					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCCCCTTTCTGAAGCATCCAT	0.488000													47	149					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	8					0	0	0.006122	0	0
SORT1	6272	broad.mit.edu	37	1	109897086	109897086	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:109897086G>A	ENST00000256637.6	-	5	669	c.611C>T	c.(610-612)gCg>gTg	p.A204V	SORT1_ENST00000538502.1_Missense_Mutation_p.A68V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	204					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAATTCTTCGCAAAATCTGA	0.418000													30	77					0	0	0.008361	0	0
ABCA3	21	broad.mit.edu	37	16	2333284	2333284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:2333284G>C	ENST00000301732.5	-	26	4638	c.3938C>G	c.(3937-3939)tCa>tGa	p.S1313*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.S1255*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1313					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGCGCACCCTGAGGCGGCCAT	0.647000													12	27					0	0	0.024245	0	0
BRCA2	675	broad.mit.edu	37	13	32903578	32903578	+	Splice_Site	SNP	A	A	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:32903578A>C	ENST00000544455.1	+	8	858		c.e8-1		BRCA2_ENST00000380152.3_Splice_Site	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset						cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.?(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTATCTTACAGTCAGAAATG	0.284000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	2					0	0	0.021553	0	0
ROS1	6098	broad.mit.edu	37	6	117708099	117708099	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:117708099C>T	ENST00000368508.3	-	14	2276	c.2078G>A	c.(2077-2079)aGc>aAc	p.S693N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S688N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	693					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGGCCAAAGCTATTTAATGG	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								29	50					0	0	0.010818	0	0
ALK	238	broad.mit.edu	37	2	30143411	30143411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:30143411G>A	ENST00000389048.3	-	1	1021	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	ALK_ENST00000431873.1_Nonsense_Mutation_p.Q39*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	39					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCCCGGGGCTGCAGCGGCGGC	0.706000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	12					0	0	0.009096	0	0
MSTN	2660	broad.mit.edu	37	2	190927237	190927237	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:190927237T>C	ENST00000260950.4	-	1	218	c.86A>G	c.(85-87)cAa>cGa	p.Q29R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	29					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATTTTCTTTTTGCTCACTGTT	0.348000													35	74					0	0	0.015359	0	0
LIF	3976	broad.mit.edu	37	22	30639706	30639706	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:30639706C>G	ENST00000249075.3	-	3	698	c.543G>C	c.(541-543)aaG>aaC	p.K181N	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	181					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AGCCCAGCTTCTTCTTCTGGA	0.572000													30	87					0	0	0.006320	0	0
CCDC7	221016	broad.mit.edu	37	10	32740540	32740540	+	Translation_Start_Site	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:32740540T>A	ENST00000545067.1	+	0	266				CCDC7_ENST00000362006.5_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_De_novo_Start_InFrame			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTTTTTTTCATCTGTAATTTG	0.338000													10	20					0	0	0.006214	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771754	90771754	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:90771754G>C	ENST00000411539.2	+	14	2653	c.2393G>C	c.(2392-2394)cGa>cCa	p.R798P	SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R798P	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGGGGTCCCGAGTCTTCACT	0.677000													10	12					0	0	0.006214	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80383466	80383466	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:80383466C>G	ENST00000369838.4	+	2	360	c.181C>G	c.(181-183)Cag>Gag	p.Q61E		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	61						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GAAACCCACTCAGGGCAACCC	0.458000													27	60					0	0	0.021523	0	0
ITGAX	3687	broad.mit.edu	37	16	31374532	31374532	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:31374532A>T	ENST00000268296.4	+	14	1668	c.1547A>T	c.(1546-1548)cAc>cTc	p.H516L	ITGAX_ENST00000562522.1_Missense_Mutation_p.H516L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	516					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGCAGGGCCACCCCTGGGGT	0.632000													19	80					0	0	0.008871	0	0
SNX9	51429	broad.mit.edu	37	6	158330947	158330947	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:158330947A>G	ENST00000392185.3	+	9	1010	c.839A>G	c.(838-840)aAt>aGt	p.N280S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	280	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TAGAACACTAATCGATCTGTA	0.393000													32	56					0	0	0.012213	0	0
HSPA4	3308	broad.mit.edu	37	5	132427046	132427046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr5:132427046C>T	ENST00000304858.2	+	12	1829	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	514					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAACAGATCAGAATGCAAA	0.438000													11	13					0	0	0.008291	0	0
UBR5	51366	broad.mit.edu	37	8	103301699	103301699	+	Silent	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:103301699A>T	ENST00000520539.1	-	35	5301	c.4695T>A	c.(4693-4695)gtT>gtA	p.V1565V	UBR5_ENST00000521922.1_Silent_p.V1559V|UBR5_ENST00000519528.1_Intron|UBR5_ENST00000220959.4_Silent_p.V1565V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1565					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCTGCTGAAACAATATCAT	0.403000													16	61					0	0	0.024245	0	0
PAG1	55824	broad.mit.edu	37	8	81897257	81897257	+	Silent	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:81897257C>G	ENST00000220597.4	-	7	1340	c.630G>C	c.(628-630)tcG>tcC	p.S210S		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	210					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAGCTCTTTCGAGGCAGAAG	0.488000													23	49					0	0	0.014323	0	0
GPC5	2262	broad.mit.edu	37	13	92051386	92051386	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:92051386C>T	ENST00000377067.3	+	1	458	c.86C>T	c.(85-87)aCc>aTc	p.T29I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	29						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGCGTGCAGACCTGCGAAGAA	0.672000													14	5					0	0	0.028581	0	0
ZNF382	84911	broad.mit.edu	37	19	37117054	37117054	+	Silent	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:37117054T>C	ENST00000435416.1	+	3	1747	c.252T>C	c.(250-252)gaT>gaC	p.D84D	ZNF382_ENST00000439428.1_Silent_p.D84D|ZNF382_ENST00000292928.2_Silent_p.D85D|ZNF382_ENST00000423582.1_Silent_p.D36D			Q96SR6	ZN382_HUMAN	zinc finger protein 382	85	Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAACTGAAGATGTCTTAGTGA	0.343000													16	36					0	0	0.004990	0	0
AMER1	139285	broad.mit.edu	37	X	63412439	63412439	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:63412439G>A	ENST00000330258.3	-	2	1000	c.728C>T	c.(727-729)cCa>cTa	p.P243L	AMER1_ENST00000403336.1_Missense_Mutation_p.P243L|AMER1_ENST00000374869.3_Missense_Mutation_p.P243L	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AGAAGGTTCTGGTGTTGGAGA	0.542000													47	30					0	0	0.014410	0	0
ZNF319	57567	broad.mit.edu	37	16	58031375	58031375	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:58031375C>A	ENST00000299237.2	-	2	1417	c.795G>T	c.(793-795)aaG>aaT	p.K265N		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTTGAAGGTCTTCTCGCAGA	0.612000													9	37					3.09899e-07	3.43341e-07	0.004482	1	0
KIF1B	23095	broad.mit.edu	37	1	10318626	10318626	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:10318626G>C	ENST00000377086.1	+	4	461	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	KIF1B_ENST00000263934.6_Missense_Mutation_p.E87Q|KIF1B_ENST00000377083.1_Missense_Mutation_p.E87Q|KIF1B_ENST00000377093.4_Missense_Mutation_p.E87Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.E87Q			O60333	KIF1B_HUMAN	kinesin family member 1B	87	Kinesin-motor.			E -> G (in Ref. 7; BAA25517).	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)		ACACGCCTTTGAGGGATATAA	0.418000													21	47					0	0	0.010504	0	0
ULK2	9706	broad.mit.edu	37	17	19698941	19698941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:19698941C>G	ENST00000395544.4	-	20	2594	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	ULK2_ENST00000361658.2_Missense_Mutation_p.D699H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	699					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TTACCTATATCCATTGGTCGT	0.383000													43	65					0	0	0.008740	0	0
ABCA2	20	broad.mit.edu	37	9	139907546	139907546	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr9:139907546G>C	ENST00000265662.5	-	30	4922	c.4775C>G	c.(4774-4776)cCc>cGc	p.P1592R	ABCA2_ENST00000371605.3_Missense_Mutation_p.P1591R|ABCA2_ENST00000341511.6_Missense_Mutation_p.P1592R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1591					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAGGGTGGGGGTGGCACGAA	0.677000													13	1					0	0	0.016723	0	0
PCDH8	5100	broad.mit.edu	37	13	53419750	53419750	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:53419750C>T	ENST00000377942.3	-	2	2852	c.2649G>A	c.(2647-2649)ccG>ccA	p.P883P	PCDH8_ENST00000338862.4_Silent_p.P786P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	883					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCCAAAACCCGGGGAGGCAC	0.557000													4	32					0	0	0.009096	0	0
POTEH	23784	broad.mit.edu	37	22	16279217	16279217	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:16279217T>A	ENST00000343518.6	-	4	1057	c.1006A>T	c.(1006-1008)Aat>Tat	p.N336Y		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	336										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCAGTGCATTTAAATTTGCT	0.313000													29	221					0	0	0.027356	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234945	26234945	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:26234945C>T	ENST00000244534.5	-	1	271	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	73	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTTCTACATCGTAGCCAGCA	0.542000													34	80					0	0	0.012213	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405833	23405833	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:23405833G>T	ENST00000418100.1	-	4	1331	c.1214C>A	c.(1213-1215)aCa>aAa	p.T405K																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GTGTGAGGATGTGTTAAAGGC	0.398000													12	20					0.0135373	0.0139916	0.013537	1	0
ULK2	9706	broad.mit.edu	37	17	19699443	19699443	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:19699443C>T	ENST00000395544.4	-	19	2461	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	ULK2_ENST00000361658.2_Silent_p.Q654Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	654					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GCTCGGCCCGCTGCCTCTCAC	0.473000													37	47					0	0	0.021022	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	64					0	0	0.021553	0	0
AEN	64782	broad.mit.edu	37	15	89169569	89169569	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:89169569G>A	ENST00000332810.3	+	2	280	c.129G>A	c.(127-129)cgG>cgA	p.R43R	AEN_ENST00000379231.3_Silent_p.R43R	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	43					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGGCCCGGAAGGCCTTGC	0.627000													22	5					0	0	0.012319	0	0
C2orf16	84226	broad.mit.edu	37	2	27803934	27803934	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:27803934G>C	ENST00000408964.2	+	1	4546	c.4495G>C	c.(4495-4497)Gag>Cag	p.E1499Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1499										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCCAGCCAGGAGTCTAAGAA	0.478000													34	71					0	0	0.012213	0	0
FRMD7	90167	broad.mit.edu	37	X	131212868	131212868	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:131212868G>C	ENST00000298542.4	-	12	1352	c.1177C>G	c.(1177-1179)Ctg>Gtg	p.L393V	FRMD7_ENST00000464296.1_Missense_Mutation_p.L378V|FRMD7_ENST00000370879.1_Missense_Mutation_p.L273V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	393					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAatgctccagctcagttgca	0.478000													71	38					0	0	0.014410	0	0
ALOXE3	59344	broad.mit.edu	37	17	8017844	8017844	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:8017844G>C	ENST00000380149.1	-	5	1136	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.S345*|ALOXE3_ENST00000448843.2_Nonsense_Mutation_p.S213*			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	213	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTTGGTGGCTGAGTATCGAAC	0.552000													21	44					0	0	0.010504	0	0
ATP8B2	57198	broad.mit.edu	37	1	154306629	154306629	+	Silent	SNP	C	C	T	rs142408071	by1000genomes	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:154306629C>T	ENST00000368489.3	+	10	735	c.735C>T	c.(733-735)agC>agT	p.S245S	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Silent_p.S212S|ATP8B2_ENST00000341822.2_Silent_p.S231S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	231					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAATTCAGCGGAACCCTCT	0.517000													104	167					0	0	0.014410	0	0
DDX52	11056	broad.mit.edu	37	17	35986901	35986901	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:35986901G>C	ENST00000349699.2	-	7	908	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	DDX52_ENST00000394367.3_Missense_Mutation_p.L181V	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	289	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GTAGTCACAAGAATATCTATA	0.358000													9	34					0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92523229	92523229	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:92523229G>C	ENST00000298047.6	+	7	4473	c.4456G>C	c.(4456-4458)Gat>Cat	p.D1486H	FAT3_ENST00000525166.1_Missense_Mutation_p.D1336H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1486H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1486	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGCCACAGATAGAGATGA	0.468000										TCGA Ovarian(4;0.039)			41	44					0	0	0.027894	0	0
FIBIN	387758	broad.mit.edu	37	11	27016191	27016191	+	Missense_Mutation	SNP	G	G	C	rs144159497		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:27016191G>C	ENST00000318627.2	+	1	564	c.118G>C	c.(118-120)Gat>Cat	p.D40H		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	40						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTTCGTGCCCGATGGGGACTA	0.592000													18	17					0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62294979	62294979	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62294979C>G	ENST00000378024.4	-	5	7184	c.6910G>C	c.(6910-6912)Gag>Cag	p.E2304Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2304					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGCATCTCAGGCATCTTA	0.478000													80	87					0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62292529	62292529	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62292529C>T	ENST00000378024.4	-	5	9634	c.9360G>A	c.(9358-9360)atG>atA	p.M3120I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3120					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGAACTTTCATGTCACCTT	0.468000													92	99					0	0	0.014410	0	0
OAS2	4939	broad.mit.edu	37	12	113442855	113442855	+	Silent	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:113442855C>A	ENST00000392583.2	+	7	1503	c.1296C>A	c.(1294-1296)gtC>gtA	p.V432V	OAS2_ENST00000342315.4_Silent_p.V432V|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACAAAATCGTCAAGGAAATCC	0.507000													4	27					0.00024832	0.000260145	0.009096	1	0
GRIK3	2899	broad.mit.edu	37	1	37291332	37291332	+	Silent	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:37291332G>T	ENST00000373091.3	-	11	1642	c.1626C>A	c.(1624-1626)atC>atA	p.I542I	GRIK3_ENST00000373093.4_Silent_p.I542I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	542					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TTCGATACAGGATGCTCACAC	0.572000													22	34					1.28384e-07	1.44315e-07	0.012319	1	0
LALBA	3906	broad.mit.edu	37	12	48962875	48962875	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:48962875G>C	ENST00000549817.1	-	2	327	c.282C>G	c.(280-282)atC>atG	p.I94M	LALBA_ENST00000301046.2_Missense_Mutation_p.I94M			P00709	LALBA_HUMAN	lactalbumin, alpha-	94					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGTCACAGGAGATGTCACAGA	0.468000													19	76					0	0	0.008871	0	0
NLRP3	114548	broad.mit.edu	37	1	247587937	247587937	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:247587937C>G	ENST00000366497.2	+	4	1972	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	NLRP3_ENST00000348069.2_Missense_Mutation_p.L398V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.L398V|NLRP3_ENST00000391827.2_Missense_Mutation_p.L398V|NLRP3_ENST00000391828.3_Missense_Mutation_p.L398V|NLRP3_ENST00000336119.3_Missense_Mutation_p.L398V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	398	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCCTTCAGTCTGATTCAGGA	0.537000													23	42					0	0	0.014323	0	0
BRD4	23476	broad.mit.edu	37	19	15355574	15355574	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:15355574C>T	ENST00000263377.2	-	12	2380		c.e12-1			NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4						interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGAGCCATCTCTGCAGAGGAA	0.547000			T	C15orf55	lethal midline carcinoma of young people								37	75					0	0	0.017118	0	0
FAM193A	8603	broad.mit.edu	37	4	2717749	2717749	+	Splice_Site	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:2717749G>C	ENST00000324666.5	+	19	3973		c.e19-1		FAM193A_ENST00000545951.1_Splice_Site|FAM193A_ENST00000505311.1_Splice_Site|FAM193A_ENST00000502458.1_Splice_Site|FAM193A_ENST00000382839.3_Splice_Site	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A											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						TTGTTTTACAGATGATGTCTT	0.378000													28	52					0	0	0.006320	0	0
HEATR5B	54497	broad.mit.edu	37	2	37310507	37310507	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:37310507G>A	ENST00000233099.5	-	2	146	c.51C>T	c.(49-51)atC>atT	p.I17I	HEATR5B_ENST00000354531.2_Silent_p.I17I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	17							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTGCTTCGGTGATTTGAGCCA	0.363000													14	38					0	0	0.028581	0	0
GBP7	388646	broad.mit.edu	37	1	89616257	89616257	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:89616257G>A	ENST00000294671.2	-	6	765	c.625_splice	c.e6-1	p.G209_splice		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	209						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGGGATTCTTGCCTGCAGAAT	0.403000													11	67					0	0	0.010729	0	0
MTF1	4520	broad.mit.edu	37	1	38280845	38280845	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:38280845T>C	ENST00000373036.4	-	11	2365	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	742						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATCTCCTCCTCCCCCTGCAG	0.547000													7	77					0	0	0.003080	0	0
CELSR2	1952	broad.mit.edu	37	1	109810498	109810498	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:109810498C>G	ENST00000271332.3	+	17	6195	c.6134C>G	c.(6133-6135)tCa>tGa	p.S2045*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2045					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGAATGAGTCAGGCCTAGAC	0.632000													3	31					0	0	0.004672	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64495283	64495283	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:64495283G>C	ENST00000303052.7	-	10	1528	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.Q351E|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.Q369E|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.Q369E	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	369					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						ACACATACCTGATTTCGAAGA	0.443000													6	10					0	0	0.021553	0	0
TEX9	374618	broad.mit.edu	37	15	56719843	56719843	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:56719843A>T	ENST00000537232.1	+	11	1240	c.779A>T	c.(778-780)aAa>aTa	p.K260I	MNS1_ENST00000566386.1_Intron|TEX9_ENST00000560582.1_Intron|TEX9_ENST00000352903.2_Missense_Mutation_p.K335I			Q8N6V9	TEX9_HUMAN	testis expressed 9	335										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GAAGTGTTAAAATCAGAAAAC	0.279000													10	42					0	0	0.006214	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060877	48060877	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:48060877G>A	ENST00000316364.5	+	18	2304	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R603Q|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R622Q|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000358066.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	622					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.R622L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACAAGCTCTCGGAAATTTGTA	0.428000													13	60					0	0	0.016723	0	0
DHRS13	147015	broad.mit.edu	37	17	27228113	27228113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:27228113C>A	ENST00000394901.3	-	3	819	c.427G>T	c.(427-429)Gag>Tag	p.E143*	DHRS13_ENST00000378895.4_Nonsense_Mutation_p.E193*|DHRS13_ENST00000426464.2_Nonsense_Mutation_p.E112*			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	193						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCCGCAGCTCCTGCCGCCAG	0.632000													18	39					4.35082e-09	4.92666e-09	0.010504	1	0
LPHN3	23284	broad.mit.edu	37	4	62849282	62849282	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:62849282C>T	ENST00000512091.1	+	18	3740	c.2993C>T	c.(2992-2994)tCa>tTa	p.S998L	LPHN3_ENST00000507164.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S998L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S998L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S998L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S998L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S998L|LPHN3_ENST00000514591.1_Missense_Mutation_p.S998L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S998L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1066L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	985					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGCTGTGTCAGCTGCAGTA	0.383000													36	90					0	0	0.007835	0	0
IKBKB	3551	broad.mit.edu	37	8	42176820	42176820	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:42176820C>G	ENST00000520810.1	+	14	1583	c.1397C>G	c.(1396-1398)tCc>tGc	p.S466C	IKBKB_ENST00000520835.1_Missense_Mutation_p.S464C|IKBKB_ENST00000379708.3_Missense_Mutation_p.S243C|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.S407C	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	466	Leucine-zipper.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGCTGCCTCTCCAAAATGAAG	0.473000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	93					0	0	0.006122	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906212	906212	+	Silent	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:906212G>T	ENST00000379409.2	+	5	588	c.558G>T	c.(556-558)ctG>ctT	p.L186L	PLEKHN1_ENST00000379407.2_Intron|PLEKHN1_ENST00000379410.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	186	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCTGTGGCTGCGGAGCACGT	0.692000													13	23					9.31168e-06	1.01702e-05	0.016723	1	0
GGA1	26088	broad.mit.edu	37	22	38016337	38016337	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:38016337C>G	ENST00000406772.1	+	6	829	c.177C>G	c.(175-177)atC>atG	p.I59M	GGA1_ENST00000381756.5_Missense_Mutation_p.I149M|GGA1_ENST00000343632.4_Missense_Mutation_p.I132M|GGA1_ENST00000337437.4_Missense_Mutation_p.I99M|GGA1_ENST00000325180.8_Missense_Mutation_p.I132M	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	132	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGGTGAAAATCGCAGAGGCCT	0.612000													24	84					0	0	0.018920	0	0
INTS2	57508	broad.mit.edu	37	17	59962319	59962319	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:59962319G>C	ENST00000444766.3	-	16	2131	c.2056C>G	c.(2056-2058)Cag>Gag	p.Q686E	INTS2_ENST00000251334.6_Missense_Mutation_p.Q678E	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	686					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATAGGAATCTGATCCATTAAA	0.333000													7	7					0	0	0.003080	0	0
AHNAK	79026	broad.mit.edu	37	11	62291184	62291184	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62291184C>T	ENST00000378024.4	-	5	10979	c.10705G>A	c.(10705-10707)Gaa>Aaa	p.E3569K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3569					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCCCCTTCAAGTTTGGGA	0.458000													83	55					0	0	0.014410	0	0
STK25	10494	broad.mit.edu	37	2	242441064	242441064	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:242441064C>T	ENST00000316586.4	-	3	439	c.90G>A	c.(88-90)tcG>tcA	p.S30S	STK25_ENST00000403346.3_Silent_p.S30S|STK25_ENST00000401869.1_Silent_p.S30S|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405585.1_Intron	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	30	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCTCCCCAAACGAGCCCTTGC	0.612000													5	73					0	0	0.021553	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210600	30210600	+	RNA	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:30210600T>A	ENST00000518096.1	+	0	1212																											TCCCACCTCGTGGCCTCAAGA	0.527000													20	49					0	0	0.008871	0	0
RP11-404F10.2	0	broad.mit.edu	37	1	160640798	160640798	+	RNA	DEL	T	T	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:160640798delT	ENST00000598917.1	+	0	231																											TTCTGAACAATTTTTTTTTTA	0.428													3	5	---	---	---	---					
HTR3D	200909	broad.mit.edu	37	3	183756319	183756329	+	Frame_Shift_Del	DEL	CTGCTGCTGCA	CTGCTGCTGCA	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:183756319_183756329delCTGCTGCTGCA	ENST00000382489.3	+	7	1042_1052	c.1042_1052delCTGCTGCTGCA	c.(1042-1053)cfs	p.LLLH348fs	HTR3D_ENST00000453435.1_Frame_Shift_Del_p.LLLH127fs|HTR3D_ENST00000428798.2_Frame_Shift_Del_p.LLLH298fs|HTR3D_ENST00000334128.2_Frame_Shift_Del_p.LLLH173fs	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	348						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTCCACTCCCTGCTGCTGCACTGCACCGGC	0.654													14	98	---	---	---	---					
EHHADH	1962	broad.mit.edu	37	3	184910480	184910493	+	Frame_Shift_Del	DEL	CCTAATTCACAGAG	CCTAATTCACAGAG	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:184910480_184910493delCCTAATTCACAGAG	ENST00000231887.3	-	7	1768_1781	c.1693_1706delCTCTGTGAATTAGG	c.(1693-1707)afs	p.LCELG565fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.LCELG469fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	565	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GCCAAATCGTCCTAATTCACAGAGCACATCAGGA	0.472													9	104	---	---	---	---					
FBXL7	23194	broad.mit.edu	37	5	15937151	15937151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr5:15937151delG	ENST00000504595.1	+	4	1813	c.1332delG	c.(1330-1332)cafs	p.Q444fs	FBXL7_ENST00000329673.7_Frame_Shift_Del_p.Q432fs|FBXL7_ENST00000510662.1_Frame_Shift_Del_p.Q397fs	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	444					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCACCGGCCAGGGCTTGCAGA	0.612													20	32	---	---	---	---					
RAB32	10981	broad.mit.edu	37	6	146865145	146865145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:146865145delC	ENST00000367495.3	+	1	317	c.138delC	c.(136-138)gtfs	p.V46fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	46					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		AGCGCTACGTCCACCAGCTCT	0.662													17	28	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14281008	14281008	+	RNA	DEL	C	C	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:14281008delC	ENST00000310358.7	+	0	2198							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGAGTGGGGGCCCCGGGCGGG	0.672													2	4	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62299831	62299831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62299831delC	ENST00000378024.4	-	5	2332	c.2058delG	c.(2056-2058)aafs	p.K686fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	686					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TATCAGGCAGCTTAACATCGG	0.473													18	78	---	---	---	---					
METTL1	4234	broad.mit.edu	37	12	58162860	58162879	+	Frame_Shift_Del	DEL	CTTCCCTCCATTACGTAGAA	CTTCCCTCCATTACGTAGAA	-	rs140194153	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:58162860_58162879delCTTCCCTCCATTACGTAGAA	ENST00000324871.7	-	6	1440_1459	c.731_750delTTCTACGTAATGGAGGGAAG	c.(730-750)gfs	p.VLRNGGK244fs	METTL1_ENST00000257848.7_3'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	244						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CTGGGAAATTCTTCCCTCCATTACGTAGAACTTTCTTCCC	0.527													11	39	---	---	---	---					
NOS1	4842	broad.mit.edu	37	12	117703229	117703230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:117703229_117703230insC	ENST00000317775.6	-	12	2712_2713	c.2027_2028insG	c.(2026-2028)gtgfs	p.V676fs	NOS1_ENST00000338101.4_Frame_Shift_Ins_p.V676fs|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	676					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGCAGGGCAGCCCCCCCGGCA	0.604													10	9	---	---	---	---					
UTP14C	9724	broad.mit.edu	37	13	52603224	52603229	+	In_Frame_Del	DEL	CTTCAT	CTTCAT	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:52603224_52603229delCTTCAT	ENST00000521776.2	+	2	1017_1022	c.284_289delCTTCAT	c.(283-291)act>a	p.TSS95del	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	95					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCCGTTAAAACTTCATCTTCTTTGGC	0.427													9	112	---	---	---	---					
SLC22A17	51310	broad.mit.edu	37	14	23821365	23821365	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr14:23821365delA	ENST00000354772.3	-	2	562	c.59delT	c.(58-60)tcfs	p.F20fs	SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000206544.8_Frame_Shift_Del_p.F20fs|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Frame_Shift_Del_p.F20fs	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	20					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTAGGGGGGAAGGCCCCGTA	0.711													2	4	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	21086866	21086878	+	Frame_Shift_Del	DEL	CACCAATGGGCTC	CACCAATGGGCTC	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:21086866_21086878delCACCAATGGGCTC	ENST00000261383.3	-	21	2973_2985	c.2974_2986delGAGCCCATTGGTG	c.(2974-2988)cafs	p.EPIGA992fs	DNAH3_ENST00000415178.1_Frame_Shift_Del_p.EPIGA992fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	992	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I994T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGCAGCTGCACCAATGGGCTCCAATCTAAAG	0.479													8	28	---	---	---	---					
TERF2	7014	broad.mit.edu	37	16	69400835	69400843	+	In_Frame_Del	DEL	GACCAATCT	GACCAATCT	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:69400835_69400843delGACCAATCT	ENST00000254942.3	-	7	1223_1231	c.1207_1215delAGATTGGTC	c.(1207-1215)del	p.RLV403del	TERF2_ENST00000603068.1_In_Frame_Del_p.RLV361del	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	361					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCTCCTCCAAGACCAATCTGCTTATTGTC	0.569													11	27	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													4	9	---	---	---	---					
