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
NOMO2	283820	broad.mit.edu	37	16	18532200	18532200	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:18532200C>G	ENST00000330537.6	-	19	2330	c.2160G>C	c.(2158-2160)gaG>gaC	p.E720D	NOMO2_ENST00000543392.1_Missense_Mutation_p.E553D|NOMO2_ENST00000381474.3_Missense_Mutation_p.E720D	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	720						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTTTCTCCCTCTCCTGCCTGC	0.562000													20	145					0	0	0.009535	0	0
ITIH5	80760	broad.mit.edu	37	10	7658000	7658000	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr10:7658000T>A	ENST00000256861.6	-	7	962	c.884A>T	c.(883-885)aAt>aTt	p.N295I	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.N81I|ITIH5_ENST00000397146.2_Missense_Mutation_p.N295I|ITIH5_ENST00000446830.2_Missense_Mutation_p.N77I|ITIH5_ENST00000397145.2_Missense_Mutation_p.N295I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	295	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAATACCACATTCTTGGGTAA	0.473000													5	106					0	0	0.004482	0	0
NOD2	64127	broad.mit.edu	37	16	50745145	50745145	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:50745145G>A	ENST00000300589.2	+	4	1428	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	441	NACHT.		E -> K (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCCGCACCGAGTTCAACCTCA	0.622000													42	62					0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6078455	6078455	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:6078455G>T	ENST00000261405.5	-	45	7905	c.7651C>A	c.(7651-7653)Cag>Aag	p.Q2551K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2551					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCTCCAGCTGGGGGCAGGAG	0.612000													15	27					2.62699e-14	2.90845e-14	0.003163	1	0
ZSWIM5	57643	broad.mit.edu	37	1	45525884	45525884	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:45525884C>T	ENST00000359600.5	-	3	1193	c.988G>A	c.(988-990)Gat>Aat	p.D330N		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	330							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGTTCTCATCGTCAATGCTG	0.493000													12	27					0	0	0.001855	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688602	153688602	+	Missense_Mutation	SNP	G	G	A	rs149048914	byFrequency	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:153688602G>A	ENST00000369682.3	+	2	254	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	27	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGCCTTCGTGGTGACAGA	0.672000													43	75					0	0	0.014410	0	0
TANGO2	128989	broad.mit.edu	37	22	20052091	20052091	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr22:20052091C>T	ENST00000327374.4	+	9	915	c.737C>T	c.(736-738)gCg>gTg	p.A246V	TANGO2_ENST00000401886.1_Missense_Mutation_p.A184V|AC006547.15_ENST00000600090.1_RNA|TANGO2_ENST00000434570.2_3'UTR|TANGO2_ENST00000456048.1_Missense_Mutation_p.A251V|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000447208.2_Missense_Mutation_p.A246V|TANGO2_ENST00000420290.2_Missense_Mutation_p.A148V|AC006547.13_ENST00000415503.1_RNA|AC006547.13_ENST00000600617.1_RNA|TANGO2_ENST00000401833.1_Missense_Mutation_p.A287V|TANGO2_ENST00000398042.2_Missense_Mutation_p.A184V|TANGO2_ENST00000432883.1_Missense_Mutation_p.A184V|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000601746.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000596334.1_RNA|AC006547.13_ENST00000608610.1_RNA	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3			transport and golgi organization 2 homolog (Drosophila)									p.A246V(1)									CTGGTAGATGCGGACGGCCAC	0.572000													33	49					0	0	0.006230	0	0
ERBB4	2066	broad.mit.edu	37	2	212578341	212578341	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:212578341G>A	ENST00000342788.4	-	8	1226	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	ERBB4_ENST00000436443.1_Missense_Mutation_p.R306C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R306C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	306	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R306S(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGCAGGCACGCACACAAGAA	0.358000										TSP Lung(8;0.080)			23	37					0	0	0.008361	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95499296	95499296	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:95499296C>T	ENST00000324972.6	+	6	720	c.527C>T	c.(526-528)aCg>aTg	p.T176M	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T159M|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T159M|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T156M|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T139M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T139M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	176					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTCTTGCCACGCATCAGTCT	0.453000													21	16					0	0	0.008871	0	0
HIVEP2	3097	broad.mit.edu	37	6	143086067	143086067	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr6:143086067C>T	ENST00000367603.2	-	7	6129	c.5387G>A	c.(5386-5388)cGg>cAg	p.R1796Q	HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1796Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1796Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTACTTTCCCCGGCCACGTCC	0.398000													44	68					0	0	0.014410	0	0
ATP11A	23250	broad.mit.edu	37	13	113514618	113514618	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr13:113514618G>A	ENST00000487903.1	+	24	2833	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	ATP11A_ENST00000375645.3_Silent_p.A915A|ATP11A_ENST00000375630.2_Silent_p.A915A|ATP11A_ENST00000283558.8_Silent_p.A915A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	915					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGACACCGCGTATCTGACCC	0.453000													98	131					0	0	0.014410	0	0
HOXB3	3213	broad.mit.edu	37	17	46628308	46628308	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr17:46628308G>A	ENST00000470495.1	-	2	2131	c.684C>T	c.(682-684)agC>agT	p.S228S	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Silent_p.S94S|HOXB3_ENST00000311626.4_Silent_p.S228S|HOXB3_ENST00000489475.1_Silent_p.S155S|HOXB3_ENST00000472863.1_Silent_p.S155S|HOXB3_ENST00000485909.2_Silent_p.S96S|HOXB3_ENST00000476342.1_Silent_p.S228S|HOXB3_ENST00000498678.1_Silent_p.S228S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Silent_p.S96S|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	228					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCCGCTCGCTGAGGTTCA	0.602000													99	123					0	0	0.014410	0	0
ITFG3	83986	broad.mit.edu	37	16	313303	313303	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:313303C>T	ENST00000399932.3	+	9	1465	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	ITFG3_ENST00000450082.2_Silent_p.A338A|ITFG3_ENST00000442458.2_Silent_p.A338A|ITFG3_ENST00000600536.1_Silent_p.A338A|ITFG3_ENST00000301679.2_Silent_p.A338A|ITFG3_ENST00000301678.3_Silent_p.A338A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	338						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAGGGAACGCCGGTGCAGATG	0.662000													57	74					0	0	0.014410	0	0
CEP152	22995	broad.mit.edu	37	15	49064779	49064779	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr15:49064779G>T	ENST00000380950.2	-	13	1874	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	CEP152_ENST00000325747.5_Missense_Mutation_p.L470M|CEP152_ENST00000399334.3_Missense_Mutation_p.L563M|CEP152_ENST00000559398.1_5'UTR	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	563					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGACACCAGATGACGCTTC	0.398000													32	48					6.53348e-20	7.45538e-20	0.003755	1	0
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:202150030C>T	ENST00000358485.4	+	8	1667	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507000										HNSCC(4;0.00038)			62	144					0	0	0.014410	0	0
RYR3	6263	broad.mit.edu	37	15	34111989	34111989	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr15:34111989A>T	ENST00000389232.4	+	77	10809	c.10739A>T	c.(10738-10740)tAt>tTt	p.Y3580F	RYR3_ENST00000415757.3_Missense_Mutation_p.Y3575F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3580					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACACCTCCTATTCCAGCATG	0.358000													169	263					0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153026569	153026569	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:153026569G>T	ENST00000285900.5	+	3	645	c.302G>T	c.(301-303)tGt>tTt	p.C101F	GRIA1_ENST00000518783.1_Missense_Mutation_p.C111F|GRIA1_ENST00000340592.5_Missense_Mutation_p.C101F|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.C32F|GRIA1_ENST00000448073.4_Missense_Mutation_p.C111F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	101					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCTCCTTTTGTGGGGCCCTC	0.502000													40	70					1.15505e-17	1.30205e-17	0.009718	1	0
GPR45	11250	broad.mit.edu	37	2	105859134	105859134	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:105859134C>T	ENST00000258456.1	+	1	935	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	273						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGATCCTCTTCGTGGGCTTCT	0.617000													86	141					0	0	0.014410	0	0
SEPT6	23157	broad.mit.edu	37	X	118786913	118786913	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:118786913A>C	ENST00000394610.1	-	4	696	c.432T>G	c.(430-432)caT>caG	p.H144Q	SEPT6_ENST00000354416.3_Missense_Mutation_p.H144Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.H86Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.H174Q|SEPT6_ENST00000354228.4_Missense_Mutation_p.H144Q|SEPT6_ENST00000343984.5_Missense_Mutation_p.H144Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.H144Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.H144Q	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	144					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCGGGAGTCATGGTAGGTGT	0.483000			T	MLL	AML								51	67					0	0	0.014410	0	0
CNTRL	11064	broad.mit.edu	37	9	123857265	123857265	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:123857265C>A	ENST00000373855.1	+	5	708	c.448C>A	c.(448-450)Cgt>Agt	p.R150S	CNTRL_ENST00000373865.2_Missense_Mutation_p.R150S|CNTRL_ENST00000238341.5_Missense_Mutation_p.R150S			Q7Z7A1	CNTRL_HUMAN	centriolin	150					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTTAAAATTACGTGAACTCAA	0.303000													3	52					0.00024832	0.000256597	0.009096	1	0
ANO4	121601	broad.mit.edu	37	12	101480521	101480521	+	Silent	SNP	G	G	A	rs138063019	byFrequency	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:101480521G>A	ENST00000392979.3	+	16	1876	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A	ANO4_ENST00000299222.9_Silent_p.A60A|ANO4_ENST00000550015.1_Silent_p.A60A|ANO4_ENST00000392977.3_Silent_p.A540A	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	540						chloride channel complex	chloride channel activity	p.A505A(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTAAGTGGGCGTTAATCAGGA	0.502000										HNSCC(74;0.22)			4	243					0	0	0.009096	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74205879	74205879	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr14:74205879G>A	ENST00000286523.5	-	2	1615	c.833C>T	c.(832-834)cCg>cTg	p.P278L	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P278L	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GGGTTGCTGCGGCATGGAATA	0.627000													3	41					0	0	0.009096	0	0
FBN3	84467	broad.mit.edu	37	19	8201324	8201324	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:8201324G>A	ENST00000600128.1	-	11	1707	c.1293C>T	c.(1291-1293)taC>taT	p.Y431Y	FBN3_ENST00000601739.1_Silent_p.Y431Y|FBN3_ENST00000270509.2_Silent_p.Y431Y			Q75N90	FBN3_HUMAN	fibrillin 3	431	EGF-like 3.					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						ACTCGCAGCGGTAGCTGGAAG	0.642000													4	192					0	0	0.009096	0	0
DIMT1	27292	broad.mit.edu	37	5	61688040	61688040	+	Silent	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:61688040G>C	ENST00000199320.4	-	10	910	c.750C>G	c.(748-750)ctC>ctG	p.L250L	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.L250L	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	250						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										TTTTTTCCAAGAGTTGTTGCA	0.294000													30	84					0	0	0.010771	0	0
ZNF721	170960	broad.mit.edu	37	4	436242	436242	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:436242C>T	ENST00000338977.5	-	2	2026	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E672K|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCACACTCTTCACATTTGTAA	0.418000													44	73					0	0	0.014410	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753889	140753889	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:140753889G>A	ENST00000517434.1	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATCCGCGAAACGGCAGC	0.572000													8	82					0	0	0.008291	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													6	172					0	0	0.008291	0	0
EMR2	30817	broad.mit.edu	37	19	14865894	14865894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:14865894C>T	ENST00000392964.3	-	8	768	c.455G>A	c.(454-456)tGg>tAg	p.W152*	EMR2_ENST00000353005.1_Missense_Mutation_p.G346S|EMR2_ENST00000594294.1_Missense_Mutation_p.G439S|EMR2_ENST00000594076.1_Missense_Mutation_p.G395S|EMR2_ENST00000596991.2_Missense_Mutation_p.G477S|EMR2_ENST00000392967.2_Missense_Mutation_p.G477S|EMR2_ENST00000601345.1_Missense_Mutation_p.G477S|EMR2_ENST00000595839.1_Missense_Mutation_p.G346S|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.G439S|EMR2_ENST00000353876.1_Missense_Mutation_p.G395S|EMR2_ENST00000315576.3_Missense_Mutation_p.G488S			Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	0	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCATTCTGGCCATGCTCCCAG	0.587000													58	89					0	0	0.014410	0	0
ZNF91	7644	broad.mit.edu	37	19	23543001	23543001	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:23543001G>T	ENST00000300619.7	-	4	2985	c.2780C>A	c.(2779-2781)aCa>aAa	p.T927K	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.T895K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	927						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCTCTTATGTGTAGTAAGGTG	0.398000													33	49					1.96642e-18	2.23021e-18	0.006999	1	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													5	136					0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233397829	233397829	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:233397829C>G	ENST00000258229.9	-	3	676	c.442G>C	c.(442-444)Ggg>Cgg	p.G148R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATGCTTTGCCCTCTGGAGCTG	0.483000													34	82					0	0	0.004878	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971146	45971146	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr21:45971146C>G	ENST00000391621.1	-	1	242	c.196G>C	c.(196-198)Gcc>Ccc	p.A66P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	66	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GATTGGCAGGCGCTGGGCTCA	0.706000													3	161					0	0	0.001168	0	0
ZNF831	128611	broad.mit.edu	37	20	57829164	57829164	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr20:57829164C>T	ENST00000371030.2	+	5	4400	c.4400C>T	c.(4399-4401)tCa>tTa	p.S1467L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1467						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TACATCTTCTCAGATGCTCAA	0.517000													28	47					0	0	0.009535	0	0
ENTPD8	377841	broad.mit.edu	37	9	140329491	140329491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:140329491C>T	ENST00000371506.2	-	10	1546	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	ENTPD8_ENST00000472938.1_Missense_Mutation_p.D455N|ENTPD8_ENST00000344119.2_Missense_Mutation_p.D418N	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	455						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCGGCGCATCGGCCGGGATC	0.687000													12	34					0	0	0.004990	0	0
GLI4	2738	broad.mit.edu	37	8	144358777	144358777	+	Missense_Mutation	SNP	G	G	A	rs147593320		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:144358777G>A	ENST00000340042.1	+	4	1019	c.934G>A	c.(934-936)Gag>Aag	p.E312K	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.E312K	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	312						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGTGCTCATCGAGCACCAGCG	0.667000													9	21					0	0	0.010729	0	0
NTRK3	4916	broad.mit.edu	37	15	88678344	88678344	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr15:88678344C>T	ENST00000394480.2	-	10	1513	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	NTRK3_ENST00000540489.2_Missense_Mutation_p.E398K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E398K|NTRK3_ENST00000557856.1_Missense_Mutation_p.E398K|NTRK3_ENST00000357724.2_Missense_Mutation_p.E398K|NTRK3_ENST00000558676.1_Missense_Mutation_p.E398K|NTRK3_ENST00000542733.2_Missense_Mutation_p.E300K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E398K|NTRK3_ENST00000317501.3_Missense_Mutation_p.E398K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAAGGGCTCCTTGAGGAAG	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			40	98					0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6140638	6140638	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:6140638C>G	ENST00000261405.5	-	21	3046	c.2792G>C	c.(2791-2793)gGa>gCa	p.G931A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	931	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AATCTCTCCTCCCTCCACCAG	0.537000													40	55					0	0	0.014410	0	0
PLEC	5339	broad.mit.edu	37	8	144993567	144993567	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:144993567G>A	ENST00000322810.4	-	32	11002	c.10833C>T	c.(10831-10833)atC>atT	p.I3611I	PLEC_ENST00000345136.3_Silent_p.I3474I|PLEC_ENST00000398774.2_Silent_p.I3442I|PLEC_ENST00000354958.2_Silent_p.I3452I|PLEC_ENST00000436759.2_Silent_p.I3501I|PLEC_ENST00000527096.1_Silent_p.I3497I|PLEC_ENST00000357649.2_Silent_p.I3478I|PLEC_ENST00000356346.3_Silent_p.I3460I|PLEC_ENST00000354589.3_Silent_p.I3474I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3611	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGTCGATGATGCCGCCCG	0.687000													7	154					0	0	0.003080	0	0
SCN3A	6328	broad.mit.edu	37	2	165984600	165984600	+	Silent	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:165984600G>C	ENST00000360093.3	-	18	3425	c.2934C>G	c.(2932-2934)ctC>ctG	p.L978L	SCN3A_ENST00000283254.7_Silent_p.L978L|SCN3A_ENST00000409101.3_Silent_p.L929L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	978						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGGCCAGAAAGAGGTTCAGAA	0.328000													12	10					0	0	0.001855	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864293	144864293	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:144864293C>G	ENST00000369359.4	-	39	6248	c.6210G>C	c.(6208-6210)gaG>gaC	p.E2070D	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1828D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1934D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1934D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2019D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1934					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGCAGAGCCTCCCTCAGGC	0.537000			T	PDGFRB	MPD								12	67					0	0	0.002450	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419936	56419936	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:56419936G>A	ENST00000407595.2	+	2	1103	c.601G>A	c.(601-603)Gca>Aca	p.A201T	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	201										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCCTCCACCGCACCCTACGT	0.662000													32	54					0	0	0.013726	0	0
HERPUD2	64224	broad.mit.edu	37	7	35709832	35709832	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:35709832C>T	ENST00000396081.1	-	3	1136	c.332G>A	c.(331-333)aGc>aAc	p.S111N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S111N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	111	Ser-rich.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CACAGAATTGCTGCTGGATGC	0.378000													36	38					0	0	0.006999	0	0
PSCA	8000	broad.mit.edu	37	8	143763436	143763436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:143763436C>A	ENST00000301258.4	+	3	314	c.231C>A	c.(229-231)tgC>tgA	p.C77*		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	77										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACATCACGTGCTGTGACACCG	0.627000													20	67					5.26018e-13	5.78931e-13	0.012319	1	0
PQLC1	80148	broad.mit.edu	37	18	77703370	77703370	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr18:77703370C>T	ENST00000397778.2	-	3	478	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PQLC1_ENST00000409073.1_Missense_Mutation_p.R16H|PQLC1_ENST00000357575.4_Missense_Mutation_p.R99H|PQLC1_ENST00000590381.1_Missense_Mutation_p.R99H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	99						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GTTGGCCACACGGACCTCGGT	0.612000													5	206					0	0	0.001168	0	0
ART1	417	broad.mit.edu	37	11	3681295	3681295	+	Silent	SNP	C	C	T	rs149229160	byFrequency	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:3681295C>T	ENST00000250693.1	+	3	647	c.546C>T	c.(544-546)caC>caT	p.H182H		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	182					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GAGGTGTGCACGGCCTGCGCT	0.667000													14	16					0	0	0.003163	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420884	55420884	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:55420884C>G	ENST00000242994.3	+	2	1039	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	221					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGAAACACATCTCCTTCATCT	0.498000													21	62					0	0	0.014323	0	0
ATAD3B	83858	broad.mit.edu	37	1	1420551	1420551	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:1420551G>C	ENST00000308647.7	+	8	1022	c.906G>C	c.(904-906)caG>caC	p.Q302H		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	302							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCCCATCCAGGTAGCGGCGC	0.687000													13	38					0	0	0.007413	0	0
ACADS	35	broad.mit.edu	37	12	121177198	121177198	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:121177198G>A	ENST00000242592.4	+	10	1337	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	ACADS_ENST00000411593.2_Missense_Mutation_p.E392K	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	396						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGGCACCAGCGAAATCCAGCG	0.687000													13	20					0	0	0.004990	0	0
SERINC2	347735	broad.mit.edu	37	1	31897634	31897634	+	Silent	SNP	C	C	T	rs35593581	byFrequency	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:31897634C>T	ENST00000373710.1	+	4	606	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SERINC2_ENST00000536859.1_Silent_p.F106F|SERINC2_ENST00000536384.1_Silent_p.F106F|SERINC2_ENST00000373709.3_Silent_p.F102F|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	102				F -> FF (in Ref. 3).		integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCATGTGCTTCGCCACGGCGG	0.657000													3	19					0	0	0.009096	0	0
EBF2	64641	broad.mit.edu	37	8	25902277	25902277	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:25902277G>A	ENST00000520164.1	-	1	636	c.99C>T	c.(97-99)gtC>gtT	p.V33V		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	33					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCACCACTCCGACATTCCGGA	0.537000													81	140					0	0	0.014410	0	0
MTUS2	23281	broad.mit.edu	37	13	29599292	29599292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr13:29599292G>T	ENST00000431530.3	+	1	545	c.487G>T	c.(487-489)Gaa>Taa	p.E163*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	153						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.E163K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGGGATGCTGAAATTCCCCG	0.507000													7	69					5.4927e-09	5.90545e-09	0.004482	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1811250	1811250	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:1811250C>T	ENST00000250894.4	+	13	1637	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R488C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	494					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.R494C(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CATCATCGCCCGCCGTGAACC	0.607000													10	163					0	0	0.002450	0	0
CS	1431	broad.mit.edu	37	12	56667537	56667537	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:56667537G>A	ENST00000548567.1	-	11	1336	c.866C>T	c.(865-867)cCg>cTg	p.P289L	CS_ENST00000542324.2_Missense_Mutation_p.P342L|CS_ENST00000351328.3_Missense_Mutation_p.P355L			O75390	CISY_HUMAN	citrate synthase	355					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GGTATATCGCGGATCAGTCTT	0.428000													55	87					0	0	0.014410	0	0
FSCB	84075	broad.mit.edu	37	14	44976106	44976106	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr14:44976106G>T	ENST00000340446.4	-	1	376	c.85C>A	c.(85-87)Cat>Aat	p.H29N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	29						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCAATACGATGGGTAGCTTTG	0.428000													53	89					2.50483e-33	2.91186e-33	0.014410	1	0
OSCP1	127700	broad.mit.edu	37	1	36898083	36898083	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:36898083G>A	ENST00000356637.5	-	4	468	c.405C>T	c.(403-405)ttC>ttT	p.F135F	OSCP1_ENST00000433045.2_Silent_p.F80F|OSCP1_ENST00000315643.9_Silent_p.F135F|OSCP1_ENST00000235532.5_Silent_p.F125F|OSCP1_ENST00000354267.3_Silent_p.F125F			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	135					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						AGTCTCGGATGAATCCCTTGA	0.517000													75	94					0	0	0.014410	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	135					0	0	0.014758	0	0
SUFU	51684	broad.mit.edu	37	10	104353808	104353808	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr10:104353808G>A	ENST00000369902.3	+	6	908	c.742G>A	c.(742-744)Gat>Aat	p.D248N	SUFU_ENST00000369899.2_Missense_Mutation_p.D248N|SUFU_ENST00000423559.2_Missense_Mutation_p.D248N|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	248					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATTTGAGATCGATCCACACCT	0.507000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				69	73					0	0	0.014410	0	0
SYT15	83849	broad.mit.edu	37	10	46969291	46969291	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr10:46969291C>G	ENST00000374325.3	-	2	322	c.170G>C	c.(169-171)cGg>cCg	p.R57P	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374321.4_Missense_Mutation_p.R57P|SYT15_ENST00000503753.1_Missense_Mutation_p.R57P	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	57						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGGCCTGTCCCGCTGCCCACT	0.642000													20	86					0	0	0.008361	0	0
CLUH	23277	broad.mit.edu	37	17	2600068	2600068	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr17:2600068G>A	ENST00000570628.2	-	11	2121	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	CLUH_ENST00000538975.1_Silent_p.S672S|CLUH_ENST00000435359.1_Silent_p.S672S					clustered mitochondria (cluA/CLU1) homolog																		TGGCCAGGCCGCTGGCGCTGC	0.662000													35	42					0	0	0.014410	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:178098960C>A	ENST00000397062.3	-	2	639	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			11	18					4.3838e-07	4.68613e-07	0.001855	1	0
C5orf54	63920	broad.mit.edu	37	5	159822089	159822089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:159822089G>A	ENST00000408953.3	-	2	916	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	C5orf54_ENST00000523213.1_Nonsense_Mutation_p.Q137*	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	137										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ggtacctgctgaagctttttt	0.398000													28	42					0	0	0.008361	0	0
KMT2C	58508	broad.mit.edu	37	7	151932913	151932913	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:151932913C>A	ENST00000355193.2	-	16	2976	c.2758G>T	c.(2758-2760)Gta>Tta	p.V920L	KMT2C_ENST00000262189.6_Missense_Mutation_p.V920L					lysine (K)-specific methyltransferase 2C																		CCAGGTAATACAACAGCTCCG	0.458000													5	156					8.12818e-05	8.4935e-05	0.001984	1	0
FAM168A	23201	broad.mit.edu	37	11	73120686	73120686	+	Silent	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:73120686C>A	ENST00000064778.4	-	7	752	c.468G>T	c.(466-468)ccG>ccT	p.P156P	RP11-809N8.4_ENST00000542598.1_RNA|FAM168A_ENST00000450446.2_Intron|FAM168A_ENST00000356467.4_Silent_p.P147P|RP11-809N8.4_ENST00000536855.1_RNA			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	156										endometrium(3)|kidney(1)|lung(1)	5						CAGCATACACCGGCTGTGTGT	0.582000													4	198					0.014758	0.0149999	0.014758	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996128	90996128	+	Silent	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr15:90996128C>G	ENST00000268182.5	+	12	1408	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	428					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCGCCGATCTCTATCAGAAGG	0.498000													23	49					0	0	0.016522	0	0
PRDM5	11107	broad.mit.edu	37	4	121675749	121675749	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:121675749T>G	ENST00000264808.3	-	14	1822	c.1582A>C	c.(1582-1584)Aaa>Caa	p.K528Q	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Missense_Mutation_p.K497Q|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	528					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCATCATTTTTACTGAATCCT	0.358000													26	34					0	0	0.004289	0	0
NPAS3	64067	broad.mit.edu	37	14	34029385	34029385	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr14:34029385A>G	ENST00000346562.2	+	4	505	c.431A>G	c.(430-432)gAa>gGa	p.E144G	NPAS3_ENST00000357798.5_Missense_Mutation_p.E163G|NPAS3_ENST00000551492.1_Missense_Mutation_p.E181G|NPAS3_ENST00000548645.1_Missense_Mutation_p.E146G|NPAS3_ENST00000341321.4_Missense_Mutation_p.E176G|NPAS3_ENST00000356141.4_Missense_Mutation_p.E176G|NPAS3_ENST00000551008.1_Missense_Mutation_p.E74G|NPAS3_ENST00000547068.1_Missense_Mutation_p.E72G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TACATTTCCGAAACAGTCTCC	0.348000													18	33					0	0	0.003330	0	0
BLM	641	broad.mit.edu	37	15	91306271	91306271	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr15:91306271A>T	ENST00000355112.3	+	8	2076	c.1958A>T	c.(1957-1959)aAg>aTg	p.K653M	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.K653M	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	653					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCTCATACAAAGGAAATGATG	0.348000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				18	19					0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	41514478	41514478	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr20:41514478C>A	ENST00000373198.4	-	2	418	c.183G>T	c.(181-183)gaG>gaT	p.E61D	PTPRT_ENST00000373201.1_Missense_Mutation_p.E61D|PTPRT_ENST00000373187.1_Missense_Mutation_p.E61D|PTPRT_ENST00000373190.1_Missense_Mutation_p.E61D|PTPRT_ENST00000373184.1_Missense_Mutation_p.E61D|PTPRT_ENST00000356100.2_Missense_Mutation_p.E61D|PTPRT_ENST00000373193.3_Missense_Mutation_p.E61D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCATTGGTTTCTCCCATGTGT	0.507000													11	103					6.40141e-05	6.72691e-05	0.010729	1	0
MUC17	140453	broad.mit.edu	37	7	100680145	100680145	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:100680145C>T	ENST00000306151.4	+	3	5512	c.5448C>T	c.(5446-5448)agC>agT	p.S1816S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1816	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTCAGCCACACGCTGG	0.493000													126	194					0	0	0.014410	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	T	A	rs13566		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110																											GCGGGATAGCTCGGTGGAGAG	0.612000													6	33					0	0	0.001984	0	0
POU4F2	5458	broad.mit.edu	37	4	147561325	147561325	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:147561325G>T	ENST00000281321.3	+	2	843	c.595G>T	c.(595-597)Ggg>Tgg	p.G199W		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	199					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCTGAGTCCCGGGCTGGCCCT	0.716000													3	6					3.59834e-05	3.80279e-05	0.001168	1	0
CSMD2	114784	broad.mit.edu	37	1	34080113	34080113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:34080113C>T	ENST00000373381.4	-	40	6300	c.6124G>A	c.(6124-6126)Gtg>Atg	p.V2042M	CSMD2_ENST00000373380.1_Missense_Mutation_p.V915M|CSMD2_ENST00000373377.1_Missense_Mutation_p.V141M|CSMD2_ENST00000373388.2_Missense_Mutation_p.V141M	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2002	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAAAGCCCACGGGCAGTGCT	0.557000													14	22					0	0	0.006122	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676526	234676526	+	Missense_Mutation	SNP	C	C	T	rs144978321		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:234676526C>T	ENST00000360418.3	+	3	1028	c.1028C>T	c.(1027-1029)tCg>tTg	p.S343L	UGT1A9_ENST00000354728.4_Missense_Mutation_p.S340L|UGT1A1_ENST00000609767.1_Missense_Mutation_p.S344L|UGT1A1_ENST00000608381.1_Missense_Mutation_p.S344L|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S343L|UGT1A6_ENST00000373424.1_Missense_Mutation_p.S75L|UGT1A5_ENST00000373414.3_Missense_Mutation_p.S344L|UGT1A6_ENST00000406651.1_Missense_Mutation_p.S75L|UGT1A7_ENST00000373426.3_Missense_Mutation_p.S340L|UGT1A6_ENST00000305139.6_Missense_Mutation_p.S342L|UGT1A1_ENST00000373450.4_Missense_Mutation_p.S340L|UGT1A4_ENST00000373409.3_Missense_Mutation_p.S344L|UGT1A10_ENST00000344644.5_Missense_Mutation_p.S340L|UGT1A1_ENST00000609637.1_Missense_Mutation_p.S340L|UGT1A3_ENST00000482026.1_Missense_Mutation_p.S344L|UGT1A1_ENST00000608383.1_Missense_Mutation_p.S343L|UGT1A10_ENST00000373445.1_Missense_Mutation_p.S340L			P22309	UD11_HUMAN		343					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCCGACCATCGAATCTTGCG	0.448000													81	116					0	0	0.014410	0	0
RPL31	6160	broad.mit.edu	37	2	101622832	101622832	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:101622832G>A	ENST00000264258.3	+	5	968	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409733.1_Missense_Mutation_p.D123N|RPL31_ENST00000409320.3_3'UTR	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	123					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AGTCAATGTGGATGAGAACTA	0.338000													24	29					0	0	0.010818	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220781	146220781	+	RNA	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:146220781G>C	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						ACATGAAGAAGAGAGAAGAGG	0.433000													38	11					0	0	0.005524	0	0
SLC25A43	203427	broad.mit.edu	37	X	118586947	118586947	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:118586947G>C	ENST00000217909.7	+	5	1289	c.945G>C	c.(943-945)caG>caC	p.Q315H	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	315					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GAGTCGATCAGAGTTTGCAGC	0.383000													68	91					0	0	0.014410	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582583	120582583	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:120582583C>G	ENST00000300648.6	-	41	5224	c.5212G>C	c.(5212-5214)Gaa>Caa	p.E1738Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1738					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCACGATTTCTGGCATCAAC	0.517000													89	237					0	0	0.014410	0	0
KMT2D	8085	broad.mit.edu	37	12	49440084	49440084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:49440084G>T	ENST00000301067.7	-	16	4541	c.4542C>A	c.(4540-4542)taC>taA	p.Y1514*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Y1241fs*1(1)|p.Y1514fs*1(1)									CCTCTTCTACGTAAGGAGCAT	0.562000													30	33					8.73648e-17	9.78907e-17	0.004289	1	0
MGAT1	4245	broad.mit.edu	37	5	180219508	180219508	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:180219508T>C	ENST00000446023.2	-	3	1214	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	MGAT1_ENST00000333055.3_Missense_Mutation_p.Y155C|MGAT1_ENST00000427865.2_Missense_Mutation_p.Y155C|MGAT1_ENST00000307826.4_Missense_Mutation_p.Y155C|MGAT1_ENST00000393340.3_Missense_Mutation_p.Y155C	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	155					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCGCTGCCGTAGGAGGCGAT	0.662000													45	68					0	0	0.014410	0	0
NEIL3	55247	broad.mit.edu	37	4	178260984	178260984	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:178260984A>G	ENST00000264596.3	+	5	793	c.675A>G	c.(673-675)atA>atG	p.I225M		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.I225I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TGAAAATGATACGTGATTTCA	0.358000								Base excision repair (BER), DNA glycosylases					15	20					0	0	0.010504	0	0
KMT2C	58508	broad.mit.edu	37	7	151900066	151900066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:151900066G>A	ENST00000355193.2	-	26	4263	c.4045C>T	c.(4045-4047)Cga>Tga	p.R1349*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1349*					lysine (K)-specific methyltransferase 2C																		TTCCTTTTTCGGTATCTCTTC	0.318000													14	6					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9070793	9070793	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:9070793G>A	ENST00000397910.4	-	3	16856	c.16653C>T	c.(16651-16653)ctC>ctT	p.L5551L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5553	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGGTGAAGAGCCTGGTGA	0.512000													70	103					0	0	0.014410	0	0
SDF4	51150	broad.mit.edu	37	1	1153047	1153047	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:1153047C>G	ENST00000360001.6	-	7	1196	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	312	EF-hand 5.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCGTTGTACTCGTTCATGGGG	0.632000													40	121					0	0	0.014410	0	0
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:34263626C>A	ENST00000262622.4	+	4	1691	c.933C>A	c.(931-933)ttC>ttA	p.F311L	CHST8_ENST00000438847.3_Missense_Mutation_p.F311L|CHST8_ENST00000434302.1_Missense_Mutation_p.F311L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652000													30	37					1.90571e-15	2.12253e-15	0.004289	1	0
DNAJC5G	285126	broad.mit.edu	37	2	27499703	27499703	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:27499703C>A	ENST00000296097.3	+	3	525	c.107C>A	c.(106-108)tCc>tAc	p.S36Y	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.S36Y|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.S36Y|DNAJC5G_ENST00000406962.1_Missense_Mutation_p.S36Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	36	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.S36F(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAAAAAATCCTACAGGTTC	0.428000													26	17					1.17739e-12	1.28821e-12	0.005443	1	0
PIP5K1C	23396	broad.mit.edu	37	19	3644235	3644235	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:3644235G>C	ENST00000335312.3	-	12	1448	c.1360C>G	c.(1360-1362)Ccc>Gcc	p.P454A	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.P454A|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.P454A|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.P454A	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	454					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TTCTTGGAGGGCGAGGACTTC	0.677000													6	86					0	0	0.001168	0	0
GABRG3	2567	broad.mit.edu	37	15	27572024	27572024	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr15:27572024G>A	ENST00000333743.6	+	4	593	c.339G>A	c.(337-339)atG>atA	p.M113I	GABRG3_ENST00000555083.1_Missense_Mutation_p.M113I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	113					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACAGCACAATGAAAATTCTTA	0.453000													28	100					0	0	0.013726	0	0
KIF25	3834	broad.mit.edu	37	6	168430266	168430266	+	Translation_Start_Site	SNP	A	A	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr6:168430266A>C	ENST00000443060.2	+	3	392	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	KIF25_ENST00000351261.3_Start_Codon_SNP_p.M1L|KIF25_ENST00000354419.2_Start_Codon_SNP_p.M1L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	1	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.M1L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCTTCCCAGATGACATGGAC	0.602000													4	152					0	0	0.009096	0	0
CDH5	1003	broad.mit.edu	37	16	66426056	66426056	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:66426056C>T	ENST00000341529.3	+	7	1135	c.987C>T	c.(985-987)taC>taT	p.Y329Y	CDH5_ENST00000563425.2_Silent_p.Y329Y	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	329	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATTATGAATACATCCAGCAAT	0.532000													88	131					0	0	0.014410	0	0
RGS20	8601	broad.mit.edu	37	8	54791910	54791910	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:54791910C>A	ENST00000297313.3	+	2	350	c.258C>A	c.(256-258)ttC>ttA	p.F86L	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	86					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CAAGGTTCTTCTCTCACCTTC	0.716000													77	357					1.4051e-37	1.64371e-37	0.014410	1	0
HRH2	3274	broad.mit.edu	37	5	175111277	175111277	+	Silent	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:175111277G>T	ENST00000231683.2	+	1	2814	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	HRH2_ENST00000377291.2_Silent_p.G347G	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	347					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TGTGGAGTGGGACAGAAGTCA	0.582000													38	83					6.03219e-31	6.96887e-31	0.014410	1	0
POLQ	10721	broad.mit.edu	37	3	121168259	121168259	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:121168259G>A	ENST00000264233.5	-	26	7295	c.7167C>T	c.(7165-7167)atC>atT	p.I2389I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2389					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCCATAAATGATCCCATAGC	0.373000								DNA polymerases (catalytic subunits)					91	116					0	0	0.014410	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287050	35287050	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:35287050G>A	ENST00000606205.1	-	10	1780	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	SLC1A2_ENST00000278379.3_Intron|SLC1A2_ENST00000479543.1_Intron|SLC1A2_ENST00000395750.1_Intron|SLC1A2_ENST00000395753.1_Intron			P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	0					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TACAAGTCTCGATATCCATGA	0.348000													25	36					0	0	0.003330	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs150390977	by1000genomes	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.A3V(3)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCGCAGGGCGGGCATCTT	0.746000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	19					0	0	0.014758	0	0
TUB	7275	broad.mit.edu	37	11	8111718	8111718	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:8111718G>A	ENST00000305253.4	+	4	599	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TUB_ENST00000299506.2_Missense_Mutation_p.E65K|TUB_ENST00000534099.1_Missense_Mutation_p.E71K	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	65					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ccggcAGTCAGAGGAACAAGC	0.657000													31	53					0	0	0.009718	0	0
KLHL6	89857	broad.mit.edu	37	3	183225981	183225981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:183225981C>T	ENST00000341319.3	-	3	810	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	259	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGCACGTTCTCGAGGACATAG	0.577000													54	91					0	0	0.014410	0	0
SDF4	51150	broad.mit.edu	37	1	1153018	1153018	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:1153018C>G	ENST00000360001.6	-	7	1225	c.963G>C	c.(961-963)caG>caC	p.Q321H	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	321	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).			Q -> R (in Ref. 7; BAD96799).	cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGGCGATCATCTGCTTGGCCT	0.632000													31	114					0	0	0.006999	0	0
MMP12	4321	broad.mit.edu	37	11	102742561	102742561	+	RNA	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:102742561C>T	ENST00000532855.1	-	0	568							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ACCAAAATGTCAGCCATGCCT	0.418000													11	11					0	0	0.002450	0	0
HCN1	348980	broad.mit.edu	37	5	45695966	45695966	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:45695966G>A	ENST00000303230.4	-	1	287	c.230C>T	c.(229-231)cCg>cTg	p.P77L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	77	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCCCCCCGCCGGCTCCTcgcc	0.741000													9	18					0	0	0.010729	0	0
NAT10	55226	broad.mit.edu	37	11	34130334	34130334	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:34130334C>T	ENST00000257829.3	+	3	360	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	NAT10_ENST00000527971.1_Missense_Mutation_p.R52W|NAT10_ENST00000531159.2_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	52						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGTGAAGGCTCGGCCTTCAGT	0.428000													25	29					0	0	0.010818	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													6	104					0	0	0.001168	0	0
PARD3B	117583	broad.mit.edu	37	2	206023620	206023620	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:206023620G>A	ENST00000406610.2	+	11	1816	c.1609G>A	c.(1609-1611)Gct>Act	p.A537T	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000462231.1_Missense_Mutation_p.A537T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A537T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A537T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	537	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCATGGAGGCGCTGCTTTTAA	0.443000													24	39					0	0	0.009535	0	0
CA9	768	broad.mit.edu	37	9	35674260	35674260	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:35674260T>G	ENST00000378357.4	+	1	408	c.304T>G	c.(304-306)Tca>Gca	p.S102A		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	102	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAAGCCTAAATCAGAAGAAGA	0.517000													4	10					0	0	0.014758	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													6	171					0	0	0.010729	0	0
SMYD5	10322	broad.mit.edu	37	2	73447860	73447860	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:73447860C>T	ENST00000389501.4	+	4	462	c.417C>T	c.(415-417)ccC>ccT	p.P139P	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	139							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCCCAGGCCCCTCCCAGGATG	0.532000													30	53					0	0	0.004289	0	0
BCAR1	9564	broad.mit.edu	37	16	75276374	75276374	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:75276374C>T	ENST00000546196.1	-	2	2192	c.540G>A	c.(538-540)ccG>ccA	p.P180P	BCAR1_ENST00000162330.5_Silent_p.P209P|BCAR1_ENST00000393420.6_Silent_p.P209P|BCAR1_ENST00000393422.2_Silent_p.P227P|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Silent_p.P255P|BCAR1_ENST00000542031.2_Silent_p.P207P|BCAR1_ENST00000420641.3_Silent_p.P227P|BCAR1_ENST00000538440.2_Silent_p.P209P			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	209	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTACCTTTGCCGGGGGCTTCG	0.617000													53	85					0	0	0.014410	0	0
CELF1	10658	broad.mit.edu	37	11	47510398	47510398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:47510398G>A	ENST00000395290.2	-	1	178	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	CELF1_ENST00000358597.3_Nonsense_Mutation_p.Q57*|CELF1_ENST00000532048.1_Nonsense_Mutation_p.Q84*|CELF1_ENST00000310513.5_Nonsense_Mutation_p.Q57*|CELF1_ENST00000361904.3_Nonsense_Mutation_p.Q57*|CELF1_ENST00000531165.1_Nonsense_Mutation_p.Q84*|CELF1_ENST00000395292.2_Nonsense_Mutation_p.Q57*	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	57	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCTTTGCTCTGAGGCGGGTTT	0.448000													67	72					0	0	0.014410	0	0
DENND3	22898	broad.mit.edu	37	8	142146846	142146846	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:142146846C>T	ENST00000519811.1	+	2	411	c.341C>T	c.(340-342)cCg>cTg	p.P114L	DENND3_ENST00000262585.2_Missense_Mutation_p.P34L|DENND3_ENST00000424248.1_Missense_Mutation_p.P34L|DENND3_ENST00000518347.1_Missense_Mutation_p.P114L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	34	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGCCGTCCCGGGCGGCGTG	0.677000													10	8					0	0	0.001855	0	0
DMBX1	127343	broad.mit.edu	37	1	46972828	46972828	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:46972828G>A	ENST00000371956.4	+	1	161	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMBX1_ENST00000360032.3_Missense_Mutation_p.R49H	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	49	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTGGCTGAGCGCCTGGCTGGT	0.642000													24	24					0	0	0.004656	0	0
EFNB1	1947	broad.mit.edu	37	X	68060460	68060460	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:68060460C>T	ENST00000204961.4	+	5	1784	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	335					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CAAGAGATGCCGCCCCAGAGC	0.607000													14	15					0	0	0.007413	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													8	169					0	0	0.010729	0	0
RAC3	5881	broad.mit.edu	37	17	79990672	79990672	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr17:79990672G>A	ENST00000306897.4	+	3	331	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	65					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGGACTACGATCGGCTGCG	0.612000													47	79					0	0	0.014410	0	0
ALDOB	229	broad.mit.edu	37	9	104189787	104189787	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:104189787G>A	ENST00000374855.4	-	5	641	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	173					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CTGGCGTAGCGAGCCAGGGCG	0.512000													22	33					0	0	0.012213	0	0
OFD1	8481	broad.mit.edu	37	X	13779316	13779316	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:13779316G>A	ENST00000380567.1	+	18	2825	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.P751P|OFD1_ENST00000340096.6_Silent_p.P791P			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	791	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCAGCCCTCCGGAGCAGAAAG	0.488000													59	57					0	0	0.014410	0	0
WDR88	126248	broad.mit.edu	37	19	33623141	33623141	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:33623141C>T	ENST00000361680.2	+	1	144	c.66C>T	c.(64-66)tcC>tcT	p.S22S	WDR88_ENST00000592765.1_Silent_p.S22S|WDR88_ENST00000355868.3_Silent_p.S22S			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	22										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCACCCTCCGCCCCCGCCA	0.701000													47	80					0	0	0.014410	0	0
MRPS14	63931	broad.mit.edu	37	1	174983913	174983913	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:174983913C>T	ENST00000476371.1	-	3	295	c.279G>A	c.(277-279)atG>atA	p.M93I	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	93					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						GACGGGACGTCATAACACACC	0.522000													51	196					0	0	0.014410	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722335	58722335	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:58722335G>T	ENST00000300079.5	+	5	422	c.372G>T	c.(370-372)gaG>gaT	p.E124D	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.E93D	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	93						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAAATTGTGAGATCGTAAACT	0.388000													14	21					2.23348e-06	2.37387e-06	0.004007	1	0
PHF14	9678	broad.mit.edu	37	7	11076172	11076172	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:11076172G>A	ENST00000403050.3	+	9	2182	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	PHF14_ENST00000445996.2_Missense_Mutation_p.R292H	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCAGCTATTCGTAAACTTATG	0.468000													14	161					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100676607	100676607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:100676607G>A	ENST00000306151.4	+	3	1974	c.1910G>A	c.(1909-1911)aGc>aAc	p.S637N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	637	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGTCTGTCAGCACCACACTG	0.468000													5	490					0	0	0.004482	0	0
CFTR	1080	broad.mit.edu	37	7	117254746	117254746	+	Silent	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:117254746C>A	ENST00000003084.6	+	21	3579	c.3447C>A	c.(3445-3447)tcC>tcA	p.S1149S	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.S1088S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1149	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGTAAACTCCAGCATAGATG	0.358000									Cystic Fibrosis				34	26					6.90743e-12	7.51334e-12	0.003755	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	57					0	0	0.001168	0	0
SAP18	10284	broad.mit.edu	37	13	21721473	21721473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr13:21721473C>T	ENST00000382533.4	+	4	550	c.511C>T	c.(511-513)Cca>Tca	p.P171S	SAP18_ENST00000607003.1_Missense_Mutation_p.P152S	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	152					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GCGCATGAGACCATATTAAAT	0.403000													42	94					0	0	0.014410	0	0
GPR6	2830	broad.mit.edu	37	6	110300832	110300832	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr6:110300832G>A	ENST00000414000.2	+	3	801	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	GPR6_ENST00000275169.3_Missense_Mutation_p.A173T			P46095	GPR6_HUMAN	G protein-coupled receptor 6	173						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCTGTATAACGCGCTCACCTA	0.657000													43	53					0	0	0.014410	0	0
MC2R	4158	broad.mit.edu	37	18	13884797	13884797	+	Silent	SNP	A	A	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr18:13884797A>G	ENST00000327606.3	-	2	901	c.721T>C	c.(721-723)Ttg>Ctg	p.L241L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	241					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AATGTCATCAAGAGGACATGA	0.547000													41	41					0	0	0.013114	0	0
ABHD3	171586	broad.mit.edu	37	18	19239300	19239300	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr18:19239300G>C	ENST00000578270.1	-	5	1028	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	ABHD3_ENST00000580981.1_Missense_Mutation_p.L172V|ABHD3_ENST00000289119.2_Missense_Mutation_p.L225V			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	225						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTTAGAAGCAGCATTCTAAAA	0.398000													16	45					0	0	0.016522	0	0
MCM7	4176	broad.mit.edu	37	7	99693412	99693412	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:99693412C>T	ENST00000303887.5	-	11	2225	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.R351Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	527	Interaction with RAD17.|MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GTCATTGTCTCGGTCGGGCCG	0.547000													62	167					0	0	0.014410	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960498	143960498	+	Silent	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:143960498G>T	ENST00000292427.4	-	2	377	c.345C>A	c.(343-345)ccC>ccA	p.P115P	CYP11B1_ENST00000517471.1_Silent_p.P115P|CYP11B1_ENST00000377675.3_Silent_p.P160P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	115					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCACCCAGGGCTCCAGGC	0.617000									Familial Hyperaldosteronism type I				8	119					0.00448238	0.00458089	0.004482	1	0
BZRAP1	9256	broad.mit.edu	37	17	56389469	56389469	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr17:56389469C>T	ENST00000355701.3	-	17	3583	c.2713G>A	c.(2713-2715)Ggc>Agc	p.G905S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G845S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G905S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	905	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGCTATTGCCGGGCACCCAG	0.647000													55	56					0	0	0.014410	0	0
FRMD7	90167	broad.mit.edu	37	X	131212674	131212674	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:131212674C>T	ENST00000298542.4	-	12	1546	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	FRMD7_ENST00000370879.1_Missense_Mutation_p.M337I|FRMD7_ENST00000464296.1_Missense_Mutation_p.M442I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	457					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)					AATATATGCTCATGTGATTAC	0.448000													72	180					0	0	0.014410	0	0
EWSR1	2130	broad.mit.edu	37	22	29694812	29694812	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr22:29694812C>T	ENST00000397938.2	+	14	1826	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	EWSR1_ENST00000332035.6_Missense_Mutation_p.R447W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R508W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R430W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R502W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R465W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	503	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAGGACCCCGGGGTTCCCG	0.602000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								20	24					0	0	0.010504	0	0
SALL1	6299	broad.mit.edu	37	16	51173864	51173864	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:51173864G>C	ENST00000440970.1	-	2	2409	c.1978C>G	c.(1978-1980)Cgt>Ggt	p.R660G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R757G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	757					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCATAGCACGATGGACACTG	0.547000													25	60					0	0	0.006320	0	0
DSC2	1824	broad.mit.edu	37	18	28648098	28648098	+	Silent	SNP	T	T	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr18:28648098T>C	ENST00000280904.6	-	16	3032	c.2589A>G	c.(2587-2589)ggA>ggG	p.G863G	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	863					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAGCCACCGATCCTCTTCCTT	0.423000													51	70					0	0	0.014410	0	0
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr13:101277794G>A	ENST00000342624.5	-	15	2089	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	TMTC4_ENST00000328767.5_Missense_Mutation_p.R481C|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.R592C	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	592						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458000													51	86					0	0	0.014410	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885245	88885245	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:88885245G>A	ENST00000319675.3	-	1	1051	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	319										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACATGCACGGGTAGGTAGGCG	0.537000													4	144					0	0	0.001168	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010832	85010832	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:85010832C>G	ENST00000313732.4	-	7	972		c.e7-1		ZDHHC7_ENST00000564466.1_Splice_Site|ZDHHC7_ENST00000569488.1_Splice_Site	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7							integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						TCACTGCATTCTGCGGACAAG	0.483000													34	60					0	0	0.010771	0	0
PLEC	5339	broad.mit.edu	37	8	144993569	144993569	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:144993569T>C	ENST00000322810.4	-	32	11000	c.10831A>G	c.(10831-10833)Atc>Gtc	p.I3611V	PLEC_ENST00000345136.3_Missense_Mutation_p.I3474V|PLEC_ENST00000398774.2_Missense_Mutation_p.I3442V|PLEC_ENST00000354958.2_Missense_Mutation_p.I3452V|PLEC_ENST00000436759.2_Missense_Mutation_p.I3501V|PLEC_ENST00000527096.1_Missense_Mutation_p.I3497V|PLEC_ENST00000357649.2_Missense_Mutation_p.I3478V|PLEC_ENST00000356346.3_Missense_Mutation_p.I3460V|PLEC_ENST00000354589.3_Missense_Mutation_p.I3474V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3611	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGTCGATGATGCCGCCCGTG	0.682000													8	152					0	0	0.004482	0	0
SMPD1	6609	broad.mit.edu	37	11	6412803	6412803	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:6412803T>G	ENST00000342245.4	+	2	676	c.508T>G	c.(508-510)Tgg>Ggg	p.W170G	SMPD1_ENST00000299397.3_Missense_Mutation_p.W170G|SMPD1_ENST00000527275.1_Missense_Mutation_p.W169G|SMPD1_ENST00000356761.2_Missense_Mutation_p.W170G|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	168					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CTGTGGGCACTGGGACATTTT	0.617000													5	15					0	0	0.001168	0	0
UNC5C	8633	broad.mit.edu	37	4	96199412	96199412	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:96199412C>T	ENST00000453304.1	-	4	940	c.592G>A	c.(592-594)Gag>Aag	p.E198K	UNC5C_ENST00000504962.1_Missense_Mutation_p.E198K|UNC5C_ENST00000506749.1_Missense_Mutation_p.E198K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	198	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTATTCACCTCAGCCACTGGG	0.453000													16	36					0	0	0.010504	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357317	49357317	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:49357317C>G	ENST00000263265.6	-	11	1678	c.1123G>C	c.(1123-1125)Gac>Cac	p.D375H	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D350H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	375						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGAAGCCGGTCCTGCCCGCAC	0.642000													7	32					0	0	0.001984	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174652675	174652675	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:174652675G>A	ENST00000251507.4	+	15	2014	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	614	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTCTGTGTATGATGAAGACAT	0.398000													23	83					0	0	0.006320	0	0
BAI2	576	broad.mit.edu	37	1	32196442	32196442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:32196442G>A	ENST00000373658.3	-	29	4680	c.4339C>T	c.(4339-4341)Cgc>Tgc	p.R1447C	BAI2_ENST00000440175.2_Missense_Mutation_p.R1056C|BAI2_ENST00000398538.1_Missense_Mutation_p.R1435C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000373655.2_Missense_Mutation_p.R1447C|BAI2_ENST00000257070.4_Missense_Mutation_p.R1414C|BAI2_ENST00000398556.3_Missense_Mutation_p.R1362C|BAI2_ENST00000398547.1_Missense_Mutation_p.R1380C|BAI2_ENST00000398542.1_Missense_Mutation_p.R1347C|BAI2_ENST00000527361.1_Missense_Mutation_p.R1414C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1447					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCACGGTGCGAGGCATGGTC	0.637000													40	112					0	0	0.011902	0	0
NDUFS2	4720	broad.mit.edu	37	1	161180099	161180099	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:161180099G>A	ENST00000392179.4	+	8	1025	c.786G>A	c.(784-786)ctG>ctA	p.L262L	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Silent_p.L164L|NDUFS2_ENST00000367993.3_Silent_p.L262L	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	262					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	AATAGTTGCTGACCAACAATA	0.403000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	148					0	0	0.008291	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													3	36					0	0	0.014758	0	0
NOP14	8602	broad.mit.edu	37	4	2943974	2943974	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:2943974G>C	ENST00000416614.2	-	14	2061	c.1996C>G	c.(1996-1998)Ctc>Gtc	p.L666V	NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.L666V|NOP14_ENST00000398071.4_Missense_Mutation_p.L666V|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.L666V			P78316	NOP14_HUMAN	NOP14 nucleolar protein	666					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GCCCAGCGGAGGGAGAGGCTG	0.622000													30	49					0	0	0.004878	0	0
SEPSECS	51091	broad.mit.edu	37	4	25146682	25146682	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr4:25146682G>A	ENST00000382103.2	-	7	950	c.878C>T	c.(877-879)gCt>gTt	p.A293V	SEPSECS_ENST00000302922.3_Missense_Mutation_p.A214V	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	293					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AGCAATTATAGCACCACCTAC	0.343000													18	37					0	0	0.007413	0	0
ABCB4	5244	broad.mit.edu	37	7	87031442	87031442	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr7:87031442G>A	ENST00000265723.4	-	28	3942	c.3831C>T	c.(3829-3831)gtC>gtT	p.V1277V	ABCB4_ENST00000359206.3_Silent_p.V1270V|ABCB4_ENST00000545634.1_Silent_p.V1270V|ABCB4_ENST00000453593.1_Silent_p.V1223V|ABCB4_ENST00000358400.3_Silent_p.V1223V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1277	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTGGACACTGACCATTGAAA	0.378000													47	78					0	0	0.014410	0	0
DNAH1	25981	broad.mit.edu	37	3	52387489	52387489	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:52387489G>A	ENST00000420323.2	+	20	3581	c.3320G>A	c.(3319-3321)cGg>cAg	p.R1107Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1107	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTGGCATGCGGATCCGGCAC	0.607000													37	40					0	0	0.006230	0	0
ANO4	121601	broad.mit.edu	37	12	101510477	101510477	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:101510477A>C	ENST00000392979.3	+	24	2727	c.2366A>C	c.(2365-2367)aAt>aCt	p.N789T	ANO4_ENST00000299222.9_Missense_Mutation_p.N344T|ANO4_ENST00000550015.1_Missense_Mutation_p.N344T|ANO4_ENST00000392977.3_Missense_Mutation_p.N824T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	824						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCTATGTGAATGCCAGCTTG	0.478000										HNSCC(74;0.22)			102	183					0	0	0.014410	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457471	42457471	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr17:42457471G>A	ENST00000262407.5	-	17	1682	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551W	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	551					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGCAGCACCCGCCGGCCCTGG	0.677000													24	32					0	0	0.012213	0	0
ZNF70	7621	broad.mit.edu	37	22	24086629	24086629	+	Silent	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr22:24086629G>A	ENST00000341976.3	-	2	1159	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	233						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGCTCCGGCTGAAATCTTTCC	0.537000													23	39					0	0	0.003954	0	0
ATP7A	538	broad.mit.edu	37	X	77254160	77254160	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:77254160C>T	ENST00000341514.6	+	5	1677	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R508W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	508	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAACATTGAACGGAATTTAAG	0.408000													61	121					0	0	0.014410	0	0
FBP1	2203	broad.mit.edu	37	9	97365773	97365773	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:97365773C>A	ENST00000415431.1	-	8	1136	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L	FBP1_ENST00000375326.4_Missense_Mutation_p.V303L	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	303					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ACGTCTAACACGGCCTCCTTC	0.577000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	40					2.61681e-11	2.82981e-11	0.002450	1	0
NRBP2	340371	broad.mit.edu	37	8	144921077	144921077	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:144921077G>A	ENST00000442628.2	-	9	861	c.722C>T	c.(721-723)tCc>tTc	p.S241F	NRBP2_ENST00000327830.5_5'UTR	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	241	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CATCCCAAAGGAGAAGATGTC	0.632000													8	42					0	0	0.004482	0	0
MUC5B	727897	broad.mit.edu	37	11	1271029	1271029	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:1271029A>G	ENST00000447027.1	+	31	12986	c.12928A>G	c.(12928-12930)Acc>Gcc	p.T4310A	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4307A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4307	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACTGCAACCACCCTTCCAGT	0.617000													79	133					0	0	0.014410	0	0
COL7A1	1294	broad.mit.edu	37	3	48604616	48604616	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:48604616C>T	ENST00000328333.8	-	109	8161	c.8054G>A	c.(8053-8055)cGa>cAa	p.R2685Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2653Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2685	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCAAAGCCTCGGTCACCCTG	0.607000													9	116					0	0	0.010729	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:89084114G>A	ENST00000393525.3	+	0	576																											TTGCTTTTCAGTGTCTTCTCA	0.313000													7	77					0	0	0.003080	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													4	109					0	0	0.001168	0	0
MEIS3	56917	broad.mit.edu	37	19	47920169	47920169	+	Silent	SNP	A	A	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:47920169A>G	ENST00000331559.5	-	3	678	c.237T>C	c.(235-237)gcT>gcC	p.A79A	MEIS3_ENST00000559524.1_Silent_p.A79A|MEIS3_ENST00000561293.1_Silent_p.A79A|MEIS3_ENST00000561096.1_Silent_p.A167A|MEIS3_ENST00000441740.2_Silent_p.A79A|MEIS3_ENST00000558555.1_Silent_p.A79A	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	79						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GAGAGCATGTAGCCAGTTCAC	0.617000													11	7					0	0	0.008291	0	0
NUP160	23279	broad.mit.edu	37	11	47834457	47834457	+	Silent	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:47834457C>T	ENST00000378460.2	-	15	1975	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	NUP160_ENST00000530326.1_Silent_p.L529L|NUP160_ENST00000528501.1_Silent_p.L207L|NUP160_ENST00000528071.1_Silent_p.L529L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	643					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCATATCTTCCAGAATCTGCT	0.378000													17	47					0	0	0.016522	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													5	243					0	0	0.001168	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045027	184045027	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:184045027G>A	ENST00000342981.4	+	23	3869	c.3455G>A	c.(3454-3456)gGc>gAc	p.G1152D	EIF4G1_ENST00000434061.2_Missense_Mutation_p.G956D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G987D|EIF4G1_ENST00000346169.2_Missense_Mutation_p.G1151D|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G955D|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G1151D|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G1158D|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G1112D|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G1158D|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G1065D|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G988D|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G1158D|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G1064D|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G1111D	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1151					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAGAACGAGGCGAGAAAGCT	0.577000													30	38					0	0	0.004878	0	0
PTPRM	5797	broad.mit.edu	37	18	7906503	7906503	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr18:7906503G>C	ENST00000332175.8	+	4	1506	c.469G>C	c.(469-471)Gtg>Ctg	p.V157L	PTPRM_ENST00000400053.4_Splice_Site_p.V95L|PTPRM_ENST00000400060.4_Splice_Site_p.V157L|PTPRM_ENST00000580170.1_Splice_Site_p.V157L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	157	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AATTTTCCAGGTGATTTTTGA	0.313000													18	40					0	0	0.008871	0	0
ATM	472	broad.mit.edu	37	11	108142000	108142000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:108142000C>T	ENST00000278616.4	+	20	3329	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C	ATM_ENST00000452508.2_Missense_Mutation_p.R982C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	982					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTGTATCGTCGTGACCAAGA	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			22	24					0	0	0.016522	0	0
EQTN	54586	broad.mit.edu	37	9	27286302	27286302	+	Silent	SNP	G	G	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:27286302G>T	ENST00000380032.3	-	7	623	c.540C>A	c.(538-540)atC>atA	p.I180I	EQTN_ENST00000537675.1_Silent_p.I151I	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		GCATTATTTTGATCTTCAGAT	0.443000													4	11					0.00024832	0.000256597	0.009096	1	0
UBR4	23352	broad.mit.edu	37	1	19432306	19432306	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:19432306G>A	ENST00000375267.2	-	84	12427	c.12424C>T	c.(12424-12426)Cgg>Tgg	p.R4142W	UBR4_ENST00000375217.2_Missense_Mutation_p.R4135W|UBR4_ENST00000375254.3_Missense_Mutation_p.R4142W|UBR4_ENST00000375226.2_Missense_Mutation_p.R4118W			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4142					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGCCTGCCGTGCGGCCTGC	0.622000													11	14					0	0	0.003163	0	0
CACNA1B	774	broad.mit.edu	37	9	140772647	140772647	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr9:140772647G>A	ENST00000371372.1	+	1	407	c.262G>A	c.(262-264)Gcg>Acg	p.A88T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A88T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A88T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A88T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A88T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	88					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCGCAAATACGCGAAGCGCAT	0.697000													16	30					0	0	0.010504	0	0
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:31238023G>A	ENST00000251758.5	+	5	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	201	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTCCTCGCCGAATACGAGAG	0.617000										Multiple Myeloma(12;0.14)			4	16					0	0	0.014758	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956460	16956460	+	RNA	SNP	A	A	C			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:16956460A>C	ENST00000412962.1	-	0	294																											tgcctgggcaattttttaaat	0.572000													2	4					0	0	0.004672	0	0
LINC01342	254099	broad.mit.edu	37	1	1076618	1076620	+	RNA	DEL	ATT	ATT	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:1076618_1076620delATT	ENST00000416774.1	+	0	302					NR_038869.1																						ccccacccccattcccccatccc	0.734													2	4	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													7	217	---	---	---	---					
FLVCR1	28982	broad.mit.edu	37	1	213058637	213058639	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr1:213058637_213058639delAGA	ENST00000366971.4	+	5	1293_1295	c.1095_1097delAGA	c.(1093-1098)ggagaa>gga	p.E367del	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	367					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTTTCAGGGAGAAGAAGTCAAT	0.365													38	93	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													7	385	---	---	---	---					
ARIH2OS	646450	broad.mit.edu	37	3	48956264	48956265	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:48956264_48956265insA	ENST00000408959.2	-	1	553_554	c.318_319insT	c.(316-321)cttggcfs	p.G107fs	ARIH2_ENST00000356401.4_5'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		GCAACGGCGCCAAGCACTTCCG	0.693													15	24	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													13	174	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													3	3	---	---	---	---					
RP11-445O3.2	0	broad.mit.edu	37	5	4516995	4516997	+	RNA	DEL	GTT	GTT	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:4516995_4516997delGTT	ENST00000507435.1	-	0	532																											AATGGTGGGGGTTGTTGTTctct	0.448													6	3	---	---	---	---					
LINC01331	104310351	broad.mit.edu	37	5	73804846	73804847	+	RNA	INS	-	-	C	rs145980478	by1000genomes	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:73804846_73804847insC	ENST00000507781.1	-	0	307																											actatgtgatacctgcaccacc	0.515													2	4	---	---	---	---					
LOC101927460	101927460	broad.mit.edu	37	5	124935566	124935567	+	RNA	INS	-	-	A			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr5:124935566_124935567insA	ENST00000564199.1	+	0	324																											ggcagaggcagaaaaaaaaatt	0.431													2	4	---	---	---	---					
FAM86B3P	286042	broad.mit.edu	37	8	8097122	8097123	+	RNA	INS	-	-	T	rs148799888		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr8:8097122_8097123insT	ENST00000523017.1	-	0	548																											TTCTGATAGAAttttttttttt	0.426													2	4	---	---	---	---					
RP11-282I1.1	0	broad.mit.edu	37	10	125180198	125180198	+	RNA	DEL	G	G	-	rs60690334		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr10:125180198delG	ENST00000448347.1	+	0	586																											ATCGGGGGTcggggggggggg	0.602													4	2	---	---	---	---					
UROS	7390	broad.mit.edu	37	10	127503611	127503613	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr10:127503611_127503613delTTA	ENST00000368778.3	-	4	427_429	c.234_236delTAA	c.(232-237)aataaa>aaa	p.N78del	UROS_ENST00000368797.4_In_Frame_Del_p.N78del|UROS_ENST00000368774.1_In_Frame_Del_p.N78del|UROS_ENST00000368786.1_In_Frame_Del_p.N78del			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	78					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ACCTTCAGTTTTATTGTTTTGCT	0.453													28	51	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	RNA	DEL	TCC	TCC	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr11:63533335_63533337delTCC	ENST00000433688.1	-	0	597_599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													3	3	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.690													2	4	---	---	---	---					
UCHL3	7347	broad.mit.edu	37	13	76123902	76123916	+	RNA	DEL	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA	-	rs8192737		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	ENST00000563635.1	+	0	0_8																											GggcggaagcggcggcggcggcgaaggcggcggcT	0.716											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9	---	---	---	---					
ATP4B	496	broad.mit.edu	37	13	114312442	114312444	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr13:114312442_114312444delCTC	ENST00000335288.4	-	1	57_59	c.16_18delGAG	c.(16-18)gagdel	p.E6del		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	6					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	ACGTCTTCTTCTCCTGCAGAGCC	0.640													7	28	---	---	---	---					
RP11-410D17.2	0	broad.mit.edu	37	16	58926335	58926336	+	RNA	INS	-	-	C	rs113534201	by1000genomes	TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr16:58926335_58926336insC	ENST00000500117.1	+	0	679																											caccaccatcacccccactact	0.535													5	1	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													8	494	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													4	5	---	---	---	---					
LOC100128568	100128568	broad.mit.edu	37	19	5986114	5986119	+	RNA	DEL	CTCCTT	CTCCTT	-	rs139480013		TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chr19:5986114_5986119delCTCCTT	ENST00000587836.1	+	0	112					NR_046376.1																						cctcctcctcctccttcttttgttga	0.544													3	4	---	---	---	---					
RP11-268G12.1	0	broad.mit.edu	37	X	27406080	27406082	+	RNA	DEL	ACC	ACC	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:27406080_27406082delACC	ENST00000422048.1	-	0	148																											atcaaagaataccaccaccacca	0.379													2	4	---	---	---	---					
CCDC120	90060	broad.mit.edu	37	X	48924786	48924786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3N6-01A-11D-A21A-08	TCGA-FD-A3N6-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4615ca0-b5c7-4a5c-8593-bd50034a78ae	c648ad3a-6db3-4079-95c0-66010a038a91	g.chrX:48924786delC	ENST00000376396.3	+	10	1250	c.1031delC	c.(1030-1032)gccfs	p.A344fs	CCDC120_ENST00000496529.2_Frame_Shift_Del_p.A344fs|CCDC120_ENST00000603986.1_Frame_Shift_Del_p.A379fs|CCDC120_ENST00000536628.2_Frame_Shift_Del_p.A332fs|CCDC120_ENST00000597275.1_Frame_Shift_Del_p.A344fs|CCDC120_ENST00000422185.2_Frame_Shift_Del_p.A344fs	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	344							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GCGGACCCTGCCTCCGATCGC	0.697													27	67	---	---	---	---